Diko : en:distal xp22.3 segmental monosomy

en:distal xp22.3 segmental monosomy

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1839713

Associations d'idées

[F]

›

1000

en:very long-chain fatty acids may be normal or increased

•

en:abnormal urinary collagen-derived pyridinium crosslinks (absent glc-gal-pyd)

•

en:normal collagen type i studies

•

en:aminoaciduria (in some patients)

•

en:antithrombin iii deficiency

•

en:broad tissue deposition of amylopectin-like material

•

en:decreased mitochondrial complex iii activity (skeletal muscle, fibroblasts)

•

en:decreased or increased serum testosterone

•

en:electron microscopy of patient respiratory cells shows absent outer dynein arms

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:impaired n-glycosylation

•

en:increased serum creatine kinase, mild

•

en:increased urinary phospholipids

•

en:reticulocyte count increased

•

en:increased urinary n-acetylated amino acids

•

en:allelic loss on 16p13.3 in angiomyolipoma, cardiac rhabdomyoma, cortical tuber, and giant cell astrocytoma

•

en:increased csf, plasma, and urinary 3-ortho-methyldopa (3-omd)

•

en:mild hyperammonemia

•

en:medium chain dicarboxylic aciduria

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:increased urinary creatine

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:iron overload (in some patients)

•

en:decreased urocanic acid in blood, urine, and skin cells

•

en:decreased urinary hva, 5-hiaa, and vanillyl mandelic acid (vma)

•

en:decreased serum bun

•

en:decreased lysosomal alpha-mannosidase activity in plasma and leukocytes

•

en:decreased hepatic udp-glucuronyl-transferase activity

•

en:decreased expression of glycosylphosphatidylinositol-linked proteins (e.g., cd59 107271 and cd24 600274) on hematopoietic cells

•

en:sialylation defects

•

en:absent ch50 activity in complete c4 deficiency

•

en:chromosome instability (hypo-/hyperdiploidy, chromosomal breaks, premature centromere division)

•

en:creatine phosphokinase serum increased

•

en:diverse tissue cell types (vascular endothelial cells, adipocytes, schwann cells, leukocytes) have membrane-lined cytoplasmic vacuoles with amorphous and filamentous material

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

en:hypercholesterolemia

•

en:hyperkalemia during attacks

•

en:normocalcemia

•

en:pcs involves most of all chromosomes of a metaphase

•

en:subtelomeric deletion of chromosome 16p

•

en:decreased formation of complex (tri-, tetra-antennary) n-glycans

•

en:increased prevalence among the native american lumbee indians

•

en:subepithelial fibrin deposition with inflammation (pseudomembranous inflammation) of mucosal tissues

•

en:prolonged partial thromboplastin time (ptt)

•

en:increased urinary thymine

•

en:increased urinary s-sulfocysteine

•

en:indirect hyperbilirubinemia

•

en:increased level of globotriaosylceramide (gb3) in plasma and urinary sediment

•

en:immotile cilia

•

en:hyperkalemia (>6.2 mm in both dominant and recessive)

•

en:decreased serum free thyroxine

•

en:decreased or low-normal serum parathyroid hormone (pth)

•

en:high serum osmolality

•

en:85-90% dgs patients have deletion of 22q11.2

•

en:acetyl coa:alpha-glucosaminidase n-acetyltransferase deficiency in fibroblasts

•

en:bile contains cholesterol crystals

•

en:decreased levels of csf hypocretin (hcrt, 602358)

•

en:decreased telomere length in lymphocytes

•

en:deficiency or absence of cytochrome b(-245)

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:high serum guanosine levels

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:increased coproporphyrin isomer iii:i ratio (hcp, feces)

•

en:isovaleric acidemia

•

en:low apolipoprotein

•

en:low plasma tryptophan (inflammatory type b)

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:patient cells show increased chromosome breakage

•

en:respiratory epithelial show lack of ciliary movement or abnormal movement

•

en:elevated plasma citrulline (citrullinemia)

•

en:transient eosinophilia in first decade

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:plasma triglycerides increased

•

en:normal platelet aggregation studies with adp, collagen, and ristocetin

•

en:increased urinary glycosphingolipids, particularly globotriaosylceramide

•

en:abnormal liver enzymes during illness

•

en:hereditary xanthinuria

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:elevated blood spot hydroxybutyryl carnitine

•

en:decreased plasma total cholesterol

•

en:decreased activity of galactocerebrosidase

•

en:some tissues may have normal levels of 3-hydroxyacyl-coa dehydrogenase activity

•

en:normal lysl hydroxylase activity

•

en:chromosomal mosaicism in fibroblast and/or peripheral lymphocytes no consistent karyotypic finding

•

en:systemic accumulation of very long chain fatty acids (vlcfa)

•

en:cutaneous anergy

•

en:serum acylcarnitine returns to borderline high or normal after resolution of fever

•

en:pms show deficient oxidation of debrisoquine

•

en:phytanic acid accumulation

•

en:serum cortisol decreased

•

en:neonatal hyperbilirubinemia

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:low serum levels of ketone bodies

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:fibrinogen decreased

•

en:variably decreased activity of mitochondrial respiratory complexes i, iii, iv, and v in fibroblasts and muscle

•

en:abnormal isoelectric focusing of serum transferrin (type 1 pattern)

•

en:antiribonuclear protein positive

•

en:decreased activity of long-chain 3-hydroxyacyl-coa dehydrogenase, long-chain 3-oxoacyl-coa thiolase, and long-chain 2-enoyl-coa hydratase

•

en:decreased eno3 activity

•

en:increased il6, episodic

•

en:increased soluble il2 receptor

•

en:increased urinary sulfite

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

en:occasionally mild elevation of csf protein

•

en:proteinuria (type ii, congenital)

•

en:albuminuria

•

en:aldolase a deficiency

•

en:hypoglycemia, intermittent

•

en:decreased activity of ppt1

•

en:normal serum parathyroid hormone (pth)

•

en:increased serum iduronate sulfatase

•

en:increased serum acylcarnitine during febrile crisis

•

en:normal serum phytanic and pristanic acid

•

en:hypertriglyceridemia

•

en:hyperchloremia (mean 114 mm)

•

en:decreased methylmalonyl-coa mutase activity

•

en:decreased csf 3-methoxy-4-hydroxyphenylethyleneglycol (mhpg)

•

en:decreased activity of thiopurine s-methyltransferase

•

en:abnormal liver function tests during pregnancy, resolves postpartum

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:decreased 3-beta-hydroxysteroid-delta-5-desaturase (sc5d)

•

en:decreased aminoacylase-1 activity

•

en:hemizygous deletion at 4p16.3

•

en:high urinary orotic acid

•

en:increased free erythrocyte protoporphyrin

•

en:pyrimidinuria

•

en:rhabdomyolysis in response to alcohol

•

en:serum albumin low result

•

en:decreased phk activity in liver

•

en:c-band karyotype shows 'railroad track' appearance

•

en:disproportionate work-related increase in blood lactate and pyruvate

•

en:electron microscopy of patient respiratory cells shows absent outer dynein arms in the axoneme

•

en:elevated 8(9)-cholestenol

•

en:glycosuria (less common)

•

en:increased thyroid-stimulating hormone (tsh)

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:normal levels of complement factor h, but impaired function

•

en:parathyroid hormone (pth) absent to low

•

en:urine cortisol, increased

•

en:decreased serum thiamine pyrophosphate

•

en:fasting ketosis

•

en:increased serum uric acid

•

en:igg, elevated

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:normal plasma and tissue carnitine

•

en:erythroid colony-forming units show spontaneous growth in the absence of epo

•

en:elevated pregnenolone

•

en:deficiency or absence of p67-phox protein (type ii)

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:cerebrospinal fluid oligoclonal bands

•

en:normal or increased serum creatine kinase

•

en:prolonged prothrombin and partial thromboplastin times

•

en:skewed x-inactivation in females

•

en:increased urinary propionyl glycine

•

en:normal to elevated serum 1,25-dihydroxycholecalciferol (calcitriol)

•

en:normal male karyotype (46,xy)

•

en:normal-to-slightly decreased glcnac phosphotransferase using artificial substrate (e.g., alpha-methylmannoside)

•

en:myoglobinuria with extreme exertion

•

en:low-to-normal platelet count

•

en:increased urinary malic acid

•

en:elevated plasma methionine (methioninemia)

•

en:elevated plasma alloisoleucine

•

en:decreased heme-heme interaction (e.g. hb kanagawa 141800.0169)

•

en:5-oxoprolinase deficiency

•

en:intermediate level of cellular sensitivity to uv light

•

en:normal maltase, isomaltase, and sucrase activity

•

en:neutropenia (in 1 patient)

•

en:mildly elevated creatine phosphokinase (cpk) (120270.0002)

•

en:low procollagen 1 c-peptide (in some patients)

•

en:increased urinary uracil

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:frequent inv(10)(q11.2q21) producing chimeric transforming sequence ret/ptc

•

en:decreased c3 activity

•

en:chromosomal rearrangement

•

en:abnormal fecal fat

•

en:premature centromere division (pcd) of the x chromosome observed in cultured lymphocytes during metaphase

•

en:normal serum liver enzymes

•

en:presence of cytochrome b(-245)

•

en:no hyperuricemia

•

en:hypocalcemia (64% of adults)

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:prolidase deficiency

•

en:normal to mildly increased serum parathyroid hormone (pth)

•

en:increased serum ferritin (in some patients)

•

en:elevated urinary delta-aminolevulinic acid

•

en:elevated prothrombin time

•

en:decreased telomerase activity

•

en:decreased serum thyroxine (t4)

•

en:urinary calcium-creatinine ratio < 0.01:1 supports diagnosis

•

en:undetectable serum arginine vasopressin, or antidiuretic hormone (adh, avp, 192340)

•

en:schirmer test shows alacrima

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased urinary dihydropyrimidines

•

en:increased urinary 2-hydroxybutyrate

•

en:increased urinary cortisol/cortisone ratio

•

en:increased serum iduronate sulfatase (10-20x)

•

en:increased urinary homovanillic acid (hva)

•

en:increased urinary ketones

•

en:increased urinary magnesium

•

en:interstitial deletion of 17p11.2 (most common is 3.7mb)

•

en:intracellular pas-positive polyglucosan inclusion bodies ('lafora' bodies) can be found in various tissues (brain, liver, muscle, heart, skin)

•

en:low plasma triglyceride level

•

en:increased serum total cholesterol

•

en:smooth muscle antibodies positive

•

en:increased serum direct bilirubin

•

en:increased serum creatine kinase (less common)

•

en:increased plasma phytanic acid

•

en:increased plasma creatine

•

en:increased or normal serum growth hormone (gh, 139250)

•

en:increased n-acetyl-l-aspartic acid (naa) in urine, csf, and blood

•

en:increased lactate: pyruvate ratio (group b)

•

en:increased fractional excretion of uric acid

•

en:increased csf protein during acute illness

•

en:increased csf 3-methoxytyrosine (3-mt)

•

en:increased alpha-fetoprotein (1 patient)

•

en:inappropriately normal or increased plasma hepcidin

•

en:methylsuccinic aciduria

•

en:lysosomal-like storage vacuoles in various tissues

•

en:prolonged partial thromboplastin time

•

en:mild elevation of transaminases

•

en:pipecolic acidemia

•

en:serum creatine kinase may be normal or elevated

•

en:serum bicarbonate increased

•

en:reduced platelet glycoprotein ib complex

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:recurring t(11,14) and t(14,19)(q32,q13.1) translocations

•

en:rapid radioactive iodide (rai) discharge after thiocyanate or perchlorate

•

en:pyruvic acidemia

•

en:protein c decreased

•

en:impaired oxidation of pyruvate

•

en:predominance of the d-stereoisomer

•

en:positive kveim-siltzbach skin test

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:peroxisome deficiency

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy (50%) affecting all chromosomes

•

en:patients with factor xiii alpha subunit deficiency usually also have decreased levels of plasma factor xiii beta subunit

•

en:parathyroid hormone-related peptide (pthrp) absent to low

•

en:paradoxical increase or no change in serum aldosterone and blood pressure after dexamethasone administration

•

en:normal serum bile acids

•

en:normal serum 25-hydroxyvitamin d3

•

en:normal red cell counts

•

en:normal liver histology

•

en:normal isoelectric focusing of serum transferrin

•

en:normal extrarenal responses to ddavp administration

•

en:normal constitutional karyotype

•

en:normal 46,xy karyotype

•

en:multiple visceral organs (lung, liver, spleen, kidney) contain foamy resident cells and histiocytes

•

en:impaired response to gm-csf

•

en:elevated urinary mevalonic acid

•

en:i-cell disease

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:decreased serum trypsinogen

•

en:decreased serum igm

•

en:decreased serum factor b (atypical hus)

•

en:decreased plasma arginine

•

en:decreased phytanic acid oxidase activity

•

en:decreased phosphoglucomutase 1 (pgm1) activity (less than 10% of normal values)

•

en:decreased or normal plasma insulin

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:decreased ldl cholesterol

•

en:decreased insulin receptor binding

•

en:decreased galactokinase activity

•

en:decreased csf pyridoxal 5-prime-phosphate (plp)

•

en:defects in mitochondrial oxidative phosphorylation

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased blood levels of cationic amino acids

•

en:decreased antithrombin iii (rare)

•

en:contiguous gene deletion syndrome

•

en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin kappa light chain (147200, 2p12) locus

•

en:calcium normal

•

en:branched chain ketoaciduria (alpha-keto isocaproate, alpha-keto-beta methylisovalerate, alpha-keto isovalerate)

•

en:alpha-fetoprotein normal

•

en:absent-decreased prolyl 3-hydroxylation at collagen i alpha-1 pro986

•

en:abnormal phosphatidylglycerol profile (increased 34-to-1 and decreased 36-to-1 ratio)

•

en:abnormal isoelectric focusing of serum transferrin (type 2 pattern)

•

en:3-methylglutaconic aciduria (3-mgc)

•

en:decreased transferrin increased serum iron

•

en:defect in dna repair

•

en:hypoproteinemia due to hypercatabolism

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:hyponatremia in infancy

•

en:hypoglycorrhachia (low glucose in csf)

•

en:hyperphenylalaninemia

•

en:homocystinuria (in some patients)

•

en:homocystinemia

•

en:holocarboxylase synthetase deficiency

•

en:hla-b27 haplotype association (95% patients)

•

en:high urinary copper

•

en:hemoglobin decreased

•

en:gonadotrophin increased

•

en:gaucher disease, type 1

•

en:galactosuria without galactosemia

•

en:deficiency of alpha-1,4-glucosidase (acid maltase)

•

en:folate-dependent fragile site at xq28

•

en:fibroblasts have decreased levels of ceramide, sphingomyelin, lactosylceramide, ceramide trihexoside, and globoside

•

en:ferritin decreased

•

en:enzyme replacement therapy has not been effective

•

en:elevated serum transferrin saturation

•

en:elevated serum n,n-dimethylglycine (dmg)

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:elevated plasma and urine succinylacetone

•

en:elevated fasting glucose

•

en:elevated erythrocyte adenosine deaminase activity

•

en:elevated 17-hydroxyprogesterone

•

en:electroretinogram is abnormal--rod responses are mildly abnormal and cone responses are markedly diminished

•

en:serum thiamine is normal

•

en:decreased sulfite oxidase activity

•

en:submucosal macrophages filled with sphingolipids

•

en:increased urinary excretion of camp

•

en:low or undetectable c-peptide

•

en:low or low-normal serum t4

•

en:low acth level

•

en:liver transaminases normal to slightly increased

•

en:intermittent ethylmalonic aciduria

•

en:intermittent 3-methylglutaconic aciduria

•

en:increased urinary sulfatide excretion

•

en:increased urinary succinic acid

•

en:increased urinary o-linked sialopeptides

•

en:increased urinary levels of maoa substrates (endogenous bioamines)

•

en:increased urinary l-glycerate

•

en:increased urinary carnitine esters

•

en:mitochondrial complex i deficiency in muscle

•

en:increased urinary 2-methylbutyrylglycine

•

en:increased serum lactate in acute stage

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:increased osmotic fragility

•

en:increased neopterin in urine and csf

•

en:increased gamma-interferon

•

en:increased 11-deoxycortisol

•

en:inappropriately low urine osmolality

•

en:iiga and igg antigliadin antibodies (aga)

•

en:igg deficiency

•

en:igg, decreased

•

en:microdeletion 22q11.2

•

en:myoglobinuria after exertion

•

en:hypoglycosylated serum transferrin

•

en:prothrombin time increased

•

en:very low igg

•

en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine

•

en:variable respiratory chain enzyme deficiency

•

en:t cells may be increased or decreased

•

en:thyroid hormone organification defect

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:serum thyroxine may be decreased or normal

•

en:serum lactate is usually normal

•

en:serum folate low

•

en:serum creatine kinase 20-70 times normal

•

en:serum and csf lactate may be increased

•

en:pseudohyperkalemia, due to ex vivo efflux of potassium from red cells (in some patients)

•

en:proper antibody response to protein vaccinations

•

en:n-acetyl-alpha-d-glucosaminidase deficiency in fibroblasts

•

en:prolonged bleeding time (10 - >30 minutes)

•

en:presence of the philadelphia chromosome (translocation of 9q34 and 22q11) in greater than 95% of patients

•

en:positive urinary bratton-marshall test

•

en:persistent ebv viremia

•

en:normal transferrin isoelectric profile

•

en:normal to slightly elevated plasma cholesterol

•

en:normal serum transferrin profiles

•

en:normal serum and mucosal iga

•

en:normal mitochondrial respiratory chain complex i-v (hcs)

•

en:normal igg levels

•

en:normal eosinophil peroxidase activity

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:hypokalemia during periodic paralysis (most patients)

•

en:muscle and liver tissue show decreased activities of mitochondrial complexes i, ii, and iii

•

en:hypoglycemia

•

en:absent 7-dehydrocholesterol

•

en:decreased or absent glycogen branching enzyme activity

•

en:decreased nasal nitric oxide

•

en:decreased coproporphyrinogen oxidase activity (hcp, lymphocytes, 50% of normal)

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:cytosolic phosphoenolpyruvate carboxykinase deficiency

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

en:chondroitin 6-sulfate excretion in urine

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

en:antineutrophil antibody positivity

•

en:aminoaciduria (less common)

•

en:absent pro alpha 2(i) chain synthesis (fibroblasts)

•

en:absent igg2 subclass

•

en:abnormal phospholipid profile

•

en:decreased plasma total and free carnitine

•

en:abnormal nasal potential difference

•

en:abnormal liver function tests (sgot, sgpt)

•

en:abnormal liver enzymes (rare)

•

en:abnormal columnization of chondrocytes

•

en:5-alpha-reductase-2 enzyme deficiency

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:laboratory abnormalities

•

en:very low igm

•

en:variable hypoglycemia

•

en:hypocalciuria

•

en:urinary prostaglandin e

•

en:undetectable dopamine beta-hydroxylase (dbh) protein in plasma, csf, or sympathetic fibers

•

en:decreased or absent peroxisome acyl-coa oxidase activity and protein

•

en:accumulation of neutral lipids (triglycerides) in leukocytes, muscle cells, fibroblasts, and cardiomyocytes

•

en:gamma-glutamylcysteine deficiency

•

en:hyperglycemias, postprandial

•

en:hypercholesterolemia, 350-550 mg/l in heterozygotes, 650-1000 mg/l in homozygotes

•

en:decreased serum androgens

•

en:hyperthreoninemia

•

en:hypercalciuria (in childhood)

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:hyperammonemia, episodic

•

en:high resolution g- and t- banding karyotype shows reciprocal translocation of distal 9p-6q

•

en:high nonceruloplasmin-bound serum copper

•

en:granular osmiophilic deposits (grod) in cells

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:factor vii deficiency

•

en:ethylmalonic aciduria

•

en:elevated urinary 2-ethylhydracrylate

•

en:elevated serum long-chain fatty acids

•

en:elevated creatine kinase (in some patients)

•

en:decreased serum carnitine in acute stage

•

en:deficiency of fructokinase

•

en:deficiency of serum properdin p factor

•

en:deficiency or absence of p91-phox (300481) protein

•

en:delta-1-pyrroline-3-hydroxy-5-carboxylate levels increased in urine

•

en:direct hyperbilirubinemia

•

en:dyslipidemia

•

en:elevated alkaline phosphatase

•

en:elevated alkaline phosphatase of bone origin

•

en:elevated apoa-i (1.8x normal) in homozygotes

•

en:increased urinary 2-methylacetoacetic acid

•

en:increased triglycerides (less common)

•

en:increased urinary excretion of coproporphyrin i

•

en:increased urinary, plasma, and csf dihydrouracil

•

en:increased urinary lactate

•

en:inclusion bodies (membrane-bound vacuoles) in fibroblasts

•

en:increased urinary potassium

•

en:increased urinary vanillylmandelic acid (vma)

•

en:increase urinary excretion of lysine, arginine, and ornithine

•

en:iron deficiency

•

en:increased serum s-adenosylmethionine

•

en:irregularly shaped sperm heads

•

en:isovalericaciduria

•

en:increased serum thrombopoietin may occur

•

en:increased c10:2-carnitine

•

en:increased serum pyruvate, mild

•

en:increased serum prostaglandin e2

•

en:increased serum c-reactive protein, episodic

•

en:increased serum beta-hexosaminidase (10-20x)

•

en:increased serum alpha-mannosidase

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:increased pristanic acid

•

en:increased plasma pristanic acid

•

en:increased plasma homogentisic acid (hga)

•

en:increased phytanic acid in body tissues and fluids

•

en:increased csf immunoglobulin levels

•

en:increased bile acid intermediates (dhca and thca)

•

en:leukocyte inclusion bodies (em) - intermediate filaments and ribosome clusters irregularly dispersed in cytoplasm

•

en:immotile or weakly motile cilia

•

en:karyotype analysis normal finding

•

en:pentagastrin stimulation test

•

en:loss of ciliary beat coordination

•

en:normal or increased serum phytanic acid

•

en:reduced liver and red cell uroporphyrinogen decarboxylase (uro decarboxylase)

•

en:hypophosphatemia (less common)

•

en:reduced ferrochelatase activity

•

en:pseudohypertriglyceridemia in adult form

•

en:plasma aldosterone normal

•

en:patient cells have increased levels of lmnb1 mrna and protein

•

en:partial terminal deletion of short arm of chromosome 1 (1p36)

•

en:partial deficiency of factor xiii(c)

•

en:osteocalcin increased

•

en:normal to increased plasma threonine

•

en:normal serum erythropoietin (epo, 133170)

•

en:normal serum cobalamin

•

en:normal or mildly decreased arylsulfatase a activity

•

en:normal leukocyte and platelet counts

•

en:low alkaline phosphatase

•

en:normal igm levels

•

en:neuraminidase deficiency (white blood cells, fibroblasts, cultured amniotic cells)

•

en:n-acetylgalactosamine-6-sulfatase deficiency in fibroblasts and leukocytes

•

en:mitochondria dna deletion

•

en:mild hypertriglyceridemia

•

en:microdeletion of chromosome 11q13 (43-490kb)

•

en:metabolic acidosis

•

en:low urinary cyclic amp response to pth administration

•

en:low serum levels of branched-chain amino acids

•

en:low rai (radioactive iodine) uptake

•

en:low plasma citrulline

•

en:low or normal serum igm

•

en:low levels of serum mg(2+) in the absence of other electrolyte disturbances

•

en:low copper and ceruloplasmin

•

en:hypoxemia

•

en:bilirubin conjugated increased

•

en:hypoketotic hypoglycemia

•

en:decreased csf methyltetrahydrofolate (mthf)

•

en:decreased tissue total and free carnitine

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:decreased serum levels of maoa products

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:decreased serum c3 (atypical hus)

•

en:decreased or absent serum ceruloplasmin

•

en:decreased or absent pts activity

•

en:decreased or absent ciliary motility

•

en:decreased nasal nitric oxide (in some patients)

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

en:decreased levels of certain coagulation factors

•

en:decreased fbp1 enzyme activity

•

en:decreased expression of gpi-anchored proteins on blood cells

•

en:decreased csf folate

•

en:deficiency of glycoprotein (gp)iib-iiia complex

•

en:decreased circulating cortisol level

•

en:decreased atp synthase in muscle, heart, liver, and brain

•

en:decreased alpha-n-acetylgalactosaminidase activity (less than 2% of control)

•

en:decreased activity of thymidine phosphorylase

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

en:chromosomal breakage and abnormalities of the juxtacentromeric regions of chromosomes 1, 9, and 16

•

en:cells show increased sensitivity to ionizing radiation

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

en:absent tyrosinase activity

•

en:abnormal liver function tests (less common)

•

en:abnormal karyotype in single reported female patient 46, xx,r(18)(p14q23)

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:abnormal cardiolipin subspecies composition

•

en:serum corticosterone increased

•

en:decreased von willebrand factor

•

en:deficiency of laminin in basement membranes

•

en:hypocitraturia

•

en:glycogen accumulation in both liver and muscle

•

en:hypocalcemia (male)

•

en:hypobetalipoproteinemias

•

en:hyperprolinemia (5-10 times normal)

•

en:hyperoxalaemia

•

en:hypermethioninemia, progressive

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

en:hypercholesterolemia (in 75%)

•

en:high ornithine

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:heparan sulfate excretion in urine

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:green serum

•

en:glycosuria

•

en:glycinuria

•

en:dermatan sulfate excretion in urine

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:fibroblasts show hypersensitivity to uv irradiation due to defect in transcription-coupled nucleotide excision repair (tc-ner)

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:factor viii deficiency

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:elevated urinary free sialic acid (n-acetylneuraminic acid)

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:elevated sepiapterin in csf

•

en:elevated propionate

•

en:elevated antinuclear antibody (ana) (speckled pattern)

•

en:elevated 3-hydroxypropionic acid

•

en:electron microscopy of patient respiratory cells shows loss of ciliary outer dynein arms

•

en:diffuse deposition of calcium oxalate in various tissues

•

en:reduced total and free carnitine in plasma and tissue

•

en:hyperprolinemia (10-15 times normal)

•

en:serum creatinine raised

•

en:low 25-oh-vitamin d level

•

en:normal free urinary cortisol

•

en:myoglobinuria, particularly after physical exertion (25% of patients)

•

en:myelin basic protein measurement, spinal fluid

•

en:mild-moderate prolonged bleeding time

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:metachromasia of white blood cells and fibroblasts

•

en:low to very low hdl cholesterol

•

en:low to low-normal magnesium

•

en:low serum concentration of intercellular adhesion molecule 1 (icam1)

•

en:low serum alpha-fetoprotein (recessive)

•

en:low or absent thyroid-stimulating hormone (tsh)

•

en:low or absent iga levels

•

en:low ldl cholesterol

•

en:keratan sulfate excretion in urine that decreases with age

•

en:normal platelet aggregation response to arachidonic acid (aa), adenosine 5'-diphosphate (adp), collagen, and ristocetin

•

en:irregular distribution of chondrocytes, enlarged chondrocyte lacunae, excessive fibrous matrix, perilacunar loss of glycosaminoglycan, excessive collagen aggregation

•

en:incresased urinary pyruvate

•

en:increased urinary free sialic acid (n-acetylneuraminic acid, 20-200x normal)

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:increased urinary, plasma, and csf l-2-hydroxyglutaric acid

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:increased serum triglycerides (in some patients)

•

en:increased serum thyrotropin

•

en:increased serum pyruvate in acute stage

•

en:increased serum pyruvate

•

en:increased serum creatine kinase (patient a)

•

en:increased serum c-reactive protein (crp, 123260)

•

en:increased serum alkaline phosphatase (in some patients)

•

en:normal or mildly increased serum gamma-ggt (231950)

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:increased plasma phospholipids

•

en:secondary decreases in complex i and iv activity

•

en:serum prolactin decreased

•

en:xanthine nephrolithiasis

•

en:very low density lipoprotein increased

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

en:ultra large von willebrand factor (ul-vwf) in plasma

•

en:tryptophanuria

•

en:thyroid dyshormonogenesis 5

•

en:t1 transport protein (glucose-6-phosphate translocase) defect

•

en:spongy degeneration of brain on histology

•

en:serum triglycerides normal

•

en:serum cholesterol raised

•

en:serum alpha-1-antitrypsin (pi) deficiency

•

en:serum aldosterone elevated

•

en:saposin a deficiency (finding)

•

en:normal serum cobalamin (vitamin b12)

•

en:protein total decreased

•

en:prolonged activated partial thromboplastin time (aptt)

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:presence of glial fibrillary acidic proteins (gfap) in astrocytes

•

en:pregnant mothers of affected children have decreased plasma and urinary estrogen

•

en:poor anticoagulant response to exogenous activated protein c as measured by the activated partial thromboplastin time (aptt)

•

en:platelet antibody positive

•

en:plasma aldosterone increased

•

en:percentage of bone-derived alkaline phosphatase is >60% in patients versus 40% in healthy adult subjects

•

en:patient cells show abnormal mitochondrial morphology

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:orotic acid crystalluria

•

en:organic aciduria (elevated beta-hydroxyisovalerate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate, lactate, tiglylglycine)

•

en:no evidence of common prenatal infections

•

en:increased plasma pipecolic acid

•

en:transmission electron microscopy (tem) of patient respiratory cilia shows normal 9+2 axonemal composition

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:azotemia

•

en:decreased iga, igg, igm

•

en:decreased glomerular filtration rate (gfr)

•

en:decreased circulating aldosterone level

•

en:decreased axonal flare response after intradermal histamine injection

•

en:decreased amount and activity of mitochondrial complexes i and iv

•

en:decreased activity of the pyruvate dehydrogenase (pdh) complex

•

en:decreased activity of pyruvate dehydrogenase complex

•

en:decreased activity of nadph oxidase

•

en:decreased activity of cytochrome c oxidase in muscle and fibroblasts

•

en:decreased 5-hydroxyindoleacetic acid (5-hiaa) in csf

•

en:cholesterol normal

•

en:cerebrospinal fluid lymphocytosis

•

en:bilirubin may or may not be increased

•

en:atrial abnormalities on electrocardiogram

•

en:decreased methionine synthase activity

•

en:acute hyperammonemia

•

en:accumulation of sulfatides, glycosaminoglycans, sphingolipids, and steroid sulfates in tissues and body fluids

•

en:accumulation of cholesterol esters in various tissues

•

en:abnormal serum lipoprotein levels (in 3 of 10 patients)

•

en:abnormal liver enzymes (1 patient)

•

en:abnormal liver enzymes, intermittent

•

en:abnormal karyotype in 3 patients involving distal 6p

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:uroporphyrin i and coproporphyrin i are found in plasma, red blood cells, urine, and feces

•

en:unresponsive to acth stimulation

•

en:tyrosine loss

•

en:tenascin x deficiency (serum and fibroblasts)

•

en:some increase in monosialo- and trisialotransferrin (type 1/2 pattern)

•

en:increased d-glyceric acid in serum, urine, and csf

•

en:decreased levels of cellular and mitochondrial fes-containing proteins

•

en:urinary excretion of mucopolysaccharides

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

en:hla-dqw6 association (dqb1*0602)

•

en:increased csf homovanillic acid (hva)

•

en:decreased or absent udp-glucuronyl-transferase activity

•

en:increased creatine kinase (ck)

•

en:increased csf threonine

•

en:increased 18-ohb to aldosterone ratio

•

en:incomplete n-glycosylation of cellular proteins

•

en:inclusions contain phospholipids, phosphatidylcholine, sphingolipids, gangliosides, mucopolysaccharides

•

en:iduronate sulfatase deficiency in fibroblasts, amniocytes and white blood cells

•

en:hypoproteinemia (in 1 patient)

•

en:hypofibrinogenemia

•

en:hyperornithinemia

•

en:hyperarginemia

•

en:homozygous 122kb deletion 11p15-p14

•

en:increased biliverdin in bodily fluids

•

en:high urinary excretion of inosine, 2'deoxyinosine, guanosine, and 2'deoxyguanosine

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:defect in retrograde intraflagellar transport in cilia

•

en:elevated dihydrobiopterin in csf

•

en:elevated 3-methylcitric acid

•

en:elevated long chain fatty acids

•

en:elevated gamma-glutamyltransferase

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:eosinophilia

•

en:giant cells (degenerating chondrocytes) in resting zone of epiphyseal cartilage

•

en:hb h erythrocyte inclusions

•

en:hematuria, gross and microscopic

•

en:heteroplasmic partial duplication of mtdna

•

en:high ebv viral load

•

en:ketonuria, acute

•

en:in untreated patients - elevated blood galactose urine reducing substances (galactosuria), hyperchloremic metabolic acidosis, aminoaciduria, elevated liver enzymes, albuminuria

•

en:iron low

•

en:keratan sulfaturia in some patients

•

en:low cd4+ count

•

en:ketoses, metabolic

•

en:lactate dehydrogenase increased

•

en:median mean platelet volume (mpv) 20fl

•

en:low serum anti-mullerian hormone (amh) levels

•

en:markedly decreased coproporphyrinogen oxidase activity (harderoporphyria, lymphocytes)

•

en:indirect bilirubin increased

•

en:increased serum lysine (group b)

•

en:increased urinary thiosulfate

•

en:increased urinary mannose-containing oligosaccharides

•

en:increased urinary glutaric acid

•

en:increased urinary 2-methylbutyryl glycine

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:increased serum ratio of corticosterone to 18-hydroxycorticosterone (18-ohb)

•

en:increased serum insulin-like growth factor-1 (igf1, 147740)

•

en:increased serum cholesterol (in 3 of 10 patients)

•

en:increased serum bilirubin due to hemolysis

•

en:increased serum beta-carotene

•

en:increased serum and csf lactate

•

en:increased serum, cerebrospinal fluid, and urinary levels of alpha-aminoadipic semialdehyde

•

en:increased long-chain acylcarnitine

•

en:increased iga level

•

en:methylmalonic aciduria, mild

•

en:panhypogammaglobulinemia

•

en:mildly elevated transaminases

•

en:pms excrete 10 to 200 times less metabolite in urine than wildtype (em)

•

en:type iii collagen defect

•

en:increased disialo- and asialotransferrin

•

en:transient neonatal hypoglycemia (2p21del)

•

en:thyroid hormones increased

•

en:tay-sachs disease

•

en:serum osmolality decreased

•

en:serum iron raised

•

en:serum growth hormone increased

•

en:serum acid phosphatase normal

•

en:presence of serum anti-lu3 antibodies

•

en:presence of pc mrna

•

en:polyploid sperm heads

•

en:phosphomannose isomerase deficiency in leukocytes, fibroblasts, or liver

•

en:mild to moderate thrombocytopenia (40-120 x 10(9)/l)

•

en:partial deficiency of factor xi (less common)

•

en:organic aciduria, mild (in some patients)

•

en:normal sweat chloride (3 of 3 patients)

•

en:normal serum phosphorus

•

en:normal sedimentation rate

•

en:normal platelet aggregation response to arachidonic acid (aa)

•

en:normal plasma renin

•

en:nadh-cytochrome b(5) reductase deficiency

•

en:myoglobinuria (reported in 1 patient)

•

en:mutant mtdna threonine transfer rna gene (mttt, 590090) of questionable etiology

•

en:mononuclear cell noncaseating granulomatous inflammation on biopsy (lung, skin, lip)

•

en:moderate to severe thrombocytopenia (30-90 x 10(9)/l)

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

en:dehydration

•

en:increased csf, plasma, and urinary 5-hydroxytryptophan (5htp)

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

en:decreased uros activity (1 patient)

•

en:decreased urinary sulfate

•

en:decreased serum ceruloplasmin

•

en:decreased plasma free carnitine

•

en:decreased palmitate oxidation

•

en:decreased leptin

•

en:decreased free t(3)/free t(4)

•

en:decreased fibroblast arylsulfatase a

•

en:decreased erythrocyte lactate clearance (transport), 40 to 50% of normal values

•

en:decreased carnitine in serum, muscle, heart, and liver

•

en:decreased activity of tyrosine hydroxylase

•

en:decreased acid sphingomyelinase activity

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:deficient plasma alpha-lecithin:cholesterol acyltransferase (high-density) activity

•

en:anaphase loss or nondisjunction with trisomies, tetrasomies, monosomies

•

en:aminoaciduria (rare)

•

en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria

•

en:aldosterone concentration below normal

•

en:absent platelet agglutination in presence of ristocetin

•

en:absent axonal flare response after intradermal histamine injection

•

en:absent/reduced protein s and normal total proteins in heterozygote

•

en:abnormal n-glycosylation of transferrin

•

en:abnormal liver function test

•

en:abnormal liver enzymes, intermittent (1 patient)

•

en:abnormal igfr1 function

•

en:undetectable urinary hypoxanthine

•

en:defective dna repair after ultraviolet radiation damage

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

en:hypoglycosylation of plasma glycoproteins

•

en:hematuria, macroscopic and microscopic

•

en:hypogammaglobulinemia

•

en:hypocalciuria or normocalciuria

•

en:hypocalcemia, transient

•

en:hypertriglyceridemia (rare)

•

en:hyperphosphatemia, transient

•

en:hypernatriuria

•

en:hypermagnesemia

•

en:hyperlipoproteinemia type iib

•

en:hyperchloremia (mean >110 mm in both dominant and recessive)

•

en:hyperammonemia, asymptomatic (2-5 times normal)

•

en:hepatic glycine cleavage defect

•

en:hemophilia b

•

en:granular osmiophilic deposits (grod) in cells resulting in 'curvilinear' profiles ultrastructurally

•

en:elevated 8-dehydrocholesterol

•

en:glomerular filtration rate decreased

•

en:generalized amyloid deposition

•

en:gamma-glutamylcysteine synthetase (glutamate-cysteine ligase) deficiency

•

en:foam cells in bone marrow and renal glomeruli

•

en:fasting hyperinsulinemia

•

en:euvolemia

•

en:elevated serum bile acids

•

en:elevated pth (parathyroid hormone)

•

en:elevated liver function tests

•

en:elevated csf amino acids (arginine, ornithine, aspartate, threonine, glycine, and methionine)

•

en:elevated bilirubin (bilirubinemia)

•

en:elevated alpha-ketoglutarate (in most patients)

•

en:elevated alkaline phosphatase (if more than one affected site)

•

en:undetectable norepinephrine (noradrenaline) in plasma, urine, csf

•

en:decreased or normal serum factor i

•

en:urinary excretion of cationic amino acids (lysine, arginine, ornithine)

•

en:increased urinary taurine

•

en:multiple autoantibodies

•

en:more than 50% of mitotic cells show premature chromatid separation (pcs) affecting all chromosomes

•

en:monomeric igm

•

en:mild elevation of cholesterol

•

en:mildly elevated urinary mevalonic acid

•

en:markedly increased serum creatine kinase

•

en:lysine-ketoglutarate reductase deficiency

•

en:low serum calcium

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:low level of c4 and c2

•

en:lactic acidosis

•

en:increased serum transaminases (in 1 of 3 patients)

•

en:nephrotic syndrome

•

en:increased serum manganese

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:increased peripheral blood monocytes

•

en:increased levels of carcinoembryonic antigen

•

en:increased intracellular fmrp mrna

•

en:increased ige level

•

en:increased erythrocyte sedimentation rate, episodic

•

en:increased csf lactate

•

en:increased csf, plasma, and urinary l-dopa

•

en:multiple tissue biopsies show lysosomal storage disease

•

en:normal concentration of parathyroid hormone

•

en:increased blood alanine

•

en:presence of rosenthal fibers (cytoplasmic inclusions) in astrocytes

•

en:urine uric acid decreased

•

en:urinary loss of potassium, sodium, calcium, and chloride

•

en:urinary excretion of 2-ethyl-3-hydroxy-hexanoic acid

•

en:translocation (x,7)(p11.3,q11.21) - in some patients

•

en:tonofibril defect (cross-beta-protein structure)

•

en:thyroid dyshormonogenesis 3

•

en:serum testosterone level normal

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:russell's viper venom assay may be prolonged or normal, depending on the genetic defect

•

en:reduced oxygen affinity (e.g. hb thionville 141800.0168)

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:raised c-reactive protein

•

en:positive antinuclear antibody test

•

en:normal growth hormone responses to arginine, l-dopa, and propranolol stimulation

•

en:platelet glycoprotein iiia deficiency

•

en:platelets have decreased number of alpha-granules, large vacuoles, normal number of dense bodies on electron microscopy

•

en:pipecolic acid accumulation.

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

en:abacterial leukocyturia

•

en:no evidence of perinatal infection

•

en:normal urinary pterins

•

en:normal pyridinoline excretion in urine

•

en:normal or mildly decreased serum levels of free thyroid hormones

•

en:normal or increased serum phosphate

•

en:normal or decreased serum erythropoietin (epo, 133170)

•

en:increased bone serum acid phosphatase

•

en:parathyroid hormone normal

•

en:impaired platelet aggregation

•

en:chromosomal instability

•

en:decreased serum cholesterol (in some)

•

en:decreased serum and salivary lactoferrin has been described in 1 family

•

en:decreased pyruvate carboxylase (pc) activity (less than 5%)

•

en:decreased or absent apolipoprotein a-i

•

en:decreased mitochondrial nadp(h)

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:decreased asparagine levels (in some patients)

•

en:decreased activity of 2-oxoacid dehydrogenases

•

en:cystathionine beta-synthase deficiency disease

•

en:csf pleocytosis, particularly of lymphocytes

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

en:decreased serum luteinizing hormone (lh)

•

en:bleeding time normal

•

en:beta-galactosidase deficiency in fibroblasts and white blood cells

•

en:antiphospholipid antibody

•

en:anti-factor viii positive

•

en:amylo(1,4 - 1,6) transglucosidase deficiency (brancher enzyme)

•

en:aldosterone level increased above normal

•

en:acylglycinuria

•

en:abnormal transaminases (1 patient)

•

en:abnormal secretin test

•

en:abnormal isoelectric focusing of serum transferrin (type 1 pattern without increase of asialotransferrin)

•

en:abnormally triglyceride-rich low and high density lipoproteins and beta-migrating very low density lipoproteins

•

en:hyperuricosuria

•

en:decreased serum haptoglobin

•

en:a subset of group b patients have absence of pc protein and mrna

•

en:decreased tetrasialo-transferrin

•

en:fasting hypoglycemia (early in disease course)

•

en:hyperprolinemia type 1

•

en:decreased urinary calcium and phosphate excretion

•

en:hypermagnesiuria

•

en:hyperglycinemia (1 patient)

•

en:hyperglutaminemia

•

en:homocysteinemia (in some patients)

•

en:hepatic lipase deficiency (disorder)

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:green urine

•

en:glutathione deficiency

•

en:fibronectin decreased

•

en:fatty acid pattern of serum lecithin shows increased arachidonic acid and decreased linoleic acid

•

en:high sweat sodium and chloride

•

en:excessive iodide trapping

•

en:dilated rough endoplasmic reticulum (rer)

•

en:defective t-cell proliferative responses (in some patients)

•

en:erythrocyte porphobilinogen (pbg) deaminase deficiency (exception: type ii aip)

•

en:defect in chylomicron secretion

•

en:dermatan and heparan sulfate excretion in urine

•

en:detection by rt-pcr, southern blot analysis, and fish for primary diagnosis and follow up for residual disease

•

en:dolichyl-p-glc:man(9)glcnac(2)-pp-dolichyl glucosyltransferase deficiency

•

en:elevated cholesta-8,14-dien-3-beta-ol in cultured fibroblasts

•

en:elevated csf glycine

•

en:elevated gastrin concentration

•

en:elevated serum acid phosphatase

•

en:decreased very long-chain acyl-coa dehydrogenase protein and activity

•

en:greatly increased dopamine in plasma, urine, csf (approximately 10-fold increase)

•

en:hypercalcemia

•

en:hair bulb tyrosinase present

•

en:hematuria (less common)

•

en:fibroblasts show global defects in multiple mitochondrial respiratory chain activities

•

en:hepatic argininosuccinate synthetase deficiency

•

en:high-resolution electron microscopy tomography shows absence of projection c2b at the central pair (cp) apparatus of cilia

•

en:increased csf interferon

•

en:hyperchloridura

•

en:hyperglycolic aciduria

•

en:hyperlactemia

•

en:hyperphosphatemia

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:increased fractional excretion of urate (greater than 50%)

•

en:increased igm level

•

en:elevated urinary and csf 5-amino-4-imidazolecarboxyamide (aica-riboside)

•

en:increased interferon-alpha signal

•

en:elevated urinary hyaluronic acid levels

•

en:defective (ca2+) mobilization in t cells

•

en:elevated urinary 3-methylglutarate

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

en:increased serum beta-hexosaminidase

•

en:decreased plasma triglycerides

•

en:decreased serum complement factor h

•

en:decreased tissue and serum alkaline phosphatase

•

en:decreased ubiquinone-10

•

en:decrease or absence of cathepsin d (ctsd) protein immunostaining

•

en:defective glcnac-pi synthesis

•

en:deficient ribose-s-phosphate isomerase (rpi) in fibroblasts

•

en:elevated serum alpha-fetoprotein

•

en:disturbed visual and brainstem auditory evoked responses indicative of cns demyelination

•

en:electron microscopy of patient respiratory cells shows reduced inner dynein arms and nexin links

•

en:elevated branched-chain amino acids (in most patients)

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:elevated l-2-hydroxyglutaric acid (urine)

•

en:elevated leukotriene e(4)

•

en:elevated plasma phytanic acid

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:patients have supernumerary chromosome - 47,xx(or xy), +der(22), +(11:22)(q23:q11)

•

en:increased serum ige

•

en:round, yellow-brown dha urine crystals

•

en:normal sweat electrolytes

•

en:normal urinary cyclic amp response to pth administration

•

en:no chromosomal breakage

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:organic aciduria

•

en:partial deficiency of factor xii(c)

•

en:premature chromatid separation (pcs) observed in 5% to 50% cultured lymphocytes during metaphase

•

en:serum cholesterol low or normal

•

en:normal or increased urinary cyclic amp response to pth administration

•

en:serum prolactin increased

•

en:severe amyloid angiopathy

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

en:subtelomeric deletion of long arm of chromosome 3 (3q29)

•

en:transient neonatal hypocalcemia (2p21del)

•

en:variable hyperlipidemia

•

en:very low leptin level

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:normal or increased levels of serum arginine vasopressin (antidiuretic hormone, 192340)

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:ketonuria (1 patient)

•

en:increased urinary 2-butanone

•

en:increased urinary 3-methylglutaconic acid

•

en:increased urinary cross-linked n-telopetide of type i collagen

•

en:increased urinary disaccharides (mannosyl-n-acetylglucosamine)

•

en:increased urinary methylcitrate

•

en:increased urinary porphyrin precursors porphobilinogen (pbg) and delta-aminolevulinic acid (ala) during acute attacks

•

en:iodide organification defect

•

en:low-normal platelet count (89-290 x 10(9)/l)

•

en:normal activity of von willebrand factor-cleaving protease

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low serum acth

•

en:markedly decreased or absent serum 1,25-dihydroxyvitamin d3

•

en:microsomal hmg-coa reductase decreased

•

en:mildly elevated acth

•

en:mildly elevated hdl in heterozygotes

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:mucopolysaccharidosis type iiid

•

en:decreased plasma lysine, glutamic acid, and glutamine

◀

Génériques

[F] [H]

›

en:distal

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846771 • caches: c1=50 c2=2315 c3=221

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