Diko : en:absent alkyl-dhap synthase activity

en:absent alkyl-dhap synthase activity

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1838615

Associations d'idées

[F]

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1000

en:normal serum 1,25-dihydroxyvitamin d3

•

en:normal to mildly increased serum creatine kinase

•

en:low cholesterol esterification rates

•

en:decreased beta-thromboglobulin

•

en:decreased cortisol-binding globulin

•

en:decreased fibroblast alpha-mannosidase

•

en:elevated inflammatory markers

•

en:elevated propionate

•

en:myoglobinuria

•

en:increased plasma proglucagon

•

en:panhypogammaglobulinemia

•

en:proteinuria (type ii, congenital)

•

en:protein c decreased

•

en:variable hypoglycemia

•

en:cystathioninemia

•

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

•

en:increased serum alanine

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:methylmalonic aciduria, mild

•

en:abnormal fecal fat

•

en:decreased numbers of t regulatory cells

•

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

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:hypermethioninemia, progressive

•

en:low plasma triglyceride level

•

en:aldolase a deficiency

•

en:normal constitutional karyotype

•

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

•

en:normal to mildly increased mucopolysacchariduria

•

en:pms show deficient oxidation of debrisoquine

•

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

•

en:increased 11-deoxycortisol

•

en:hyperglycemias, postprandial

•

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

•

en:mildly abnormal glycosylation of serum transferrin, type 1 pattern

•

en:decreased activity of coenzyme q10-dependent respiratory chain complexes

•

en:decreased activity of mitochondrial complex i

•

en:decreased nasal nitric oxide

•

en:elevated serum lactate

•

en:i-cell disease

•

en:immunoglobulin a decreased

•

en:increased fas ligand

•

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

•

en:leukotriene c4 synthetase deficiency

•

en:shortened telomeres (classic feature, nola3 patient)

•

en:decreased activity of tyrosine hydroxylase

•

en:decreased monoamine oxidase a activity

•

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

•

en:hypokalemia during periodic paralysis (most patients)

•

en:increased serum bile acids

•

en:increased urinary collagen type i n-telopeptide excretion (ntx) during hyperplastic callus formation

•

en:normal serum folate levels

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

en:coombs positive hemolytic anemia

•

en:increased lactate: pyruvate ratio (group b)

•

en:low serum ceruloplasmin

•

en:increased urinary catecholamines

•

en:increased serum lactate (in some patients)

•

en:abetalipoproteinemia (lab finding)

•

en:impaired n-glycosylation

•

en:hypogammaglobulinemia

•

en:decreased levels of plasma vwf antigen

•

en:decreased cholesterol (less common)

•

en:atrial abnormalities on electrocardiogram

•

en:laboratory abnormalities

•

en:balanced translocation carrier 46,xy,+(11:18)(p13:q21)mat

•

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

•

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

•

en:cytogenetics - recombinant chromosome 8 characterized by duplication of 8q22.1-qter and deletion of 8pter-p23.1

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:severely decreased antigen levels of vwf and factor viii

•

en:no c8 antigen detected

•

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

•

en:molybdenum cofactor deficiency

•

en:isochromosome often missing in lymphocyte

•

en:increased tissue levels of triglycerides

•

en:elevated plasma stigmasterol

•

en:decreased serum cobalamin

•

en:increased urinary glutaric acid

•

en:4-hydroxyphenylacetic aciduria

•

en:antiphospholipid antibody

•

en:elevated plasma insulin

•

en:high urinary copper

•

en:increased serum fgf23

•

en:decreased arylsulfatase a (arsa) activity in urine, leukocytes, fibroblasts

•

en:prominent leukocytosis (30,000/ml)

•

en:decreased fibroblast arylsulfatase a

•

en:deficiency of fat-soluble vitamins

•

en:delta-1-pyrroline-5-carboxylate (p5c) levels increased in plasma

•

en:hepatic argininosuccinate synthetase deficiency

•

en:increased serum and csf glycine

•

en:increased urinary methylcitrate

•

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

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

en:dehydroepiandrosterone (dhea) at upper level of normal range

•

en:decreased beta-mannosidase activity in plasma, fibroblasts, and leukocytes

•

en:defective (ca2+) mobilization in t cells

•

en:decreased plasminogen activity

•

en:cholesterol low

•

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

•

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

•

en:transaminitis

•

en:ketonuria, acute

•

en:decreased aminoacylase-1 activity

•

en:long-chain ketonuria

•

en:decreased circulating cortisol level

•

en:other cytogenic abnormalities have been associated with dgs phenotype including monosomy 10p13, 11p13, and 4q21

•

en:normal or increased serum phosphate

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:reduced beating amplitudes in cilia

•

en:increased urinary 2-ketoglutarate (variable)

•

en:hyperchloridura

•

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

•

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

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:plasma aldosterone normal

•

en:biotinidase deficiency

•

en:serum folate normal

•

en:serum alkaline phosphatase normal or mildly increased

•

en:decreased cobalamin in liver, kidney, and cultured fibroblasts

•

en:low cd4+ count

•

en:ketonemia

•

en:hemophilia b

•

en:creatine phosphokinase increased

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:chromosome 11q23.3 deletion

•

en:fluorescence in situ hybridization specific probe for mds critical region

•

en:decreased nk cells (in some patients)

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:high ebv viral load

•

en:serum cortisol decreased

•

en:reduced igg levels, particularly igg2 subclass

•

en:platelet glycoprotein iiia deficiency

•

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

•

en:low acth level

•

en:increased urinary taurine

•

en:increased transferrin saturation (>60%)

•

en:increased tissue long-chain fatty acids

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:increased cerebrospinal fluid (csf) protein (>100mg/dl)

•

en:farber lipogranulomatosis

•

en:elevated plasma ornithine (~10-fold)

•

en:echocardiogram abnormal

•

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

•

en:decreased serum iron (in some patients)

•

en:decreased activity of ampd1 in skeletal muscle increased serum creatine kinase

•

en:antineutrophil antibody positivity

•

en:abnormal n-glycosylation of transferrin

•

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

•

en:increased csf interferon alpha

•

en:increased osmotic fragility

•

en:mildly decreased serum creatinine

•

en:increased urinary and serum glycine

•

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

•

en:median mean platelet volume 13fl

•

en:increased vitamin e (alpha-tocopherol) levels

•

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

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:inappropriately low urine osmolality

•

en:deletion of chromosome 18p11.2

•

en:decreased or normal plasma insulin

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:thrombocytopenia

•

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

•

en:normal ciliary structure and function

•

en:multi-tailed spermatozoa

•

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

•

en:normal 46,xy karyotype

•

en:normal aldosterone

•

en:normal or decreased serum potassium

•

en:normal extrarenal responses to ddavp administration

•

en:normal number of t and b lymphocytes

•

en:normal platelet aggregation response to epinephrine, adp, collagen, and ristocetin

•

en:normal or mildly reduced serum cobalamin

•

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

•

en:microscopic hematuria

•

en:mildly elevated blood ammonia

•

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

•

en:methylmalonic acidemia

•

en:lysosomal-like storage vacuoles in various tissues

•

en:low or undetectable insulin

•

en:liver phosphorylase kinase (phk) deficiency

•

en:liver enzymes abnormal

•

en:lipopigment in extraneuronal cells

•

en:normal transferrin saturation

•

en:increased very-long chain fatty acids

•

en:increased urinary free sialic acid excretion (n-acetylneuraminic acid, 5-20x normal) enlarged lysosomal vacuoles in lymphocytes and fibroblasts

•

en:increased urinary 3-oh-butyric acid

•

en:increased serum prostaglandin e2

•

en:increased serum methionine

•

en:increased serum lactate (patient a)

•

en:increased serum glycine, leucine, isoleucine, valine

•

en:normal prolyl 4-hydroxylase activity

•

en:phosphaturia (in some)

•

en:no increased sensitivity to oxidative species

•

en:thyroid peroxidase defect

•

en:absent axonal flare response after intradermal histamine injection

•

en:absence of peroxidase staining in neutrophils and monocytes

•

en:abnormal urinary organic acids

•

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

•

en:abnormal phospholipid profile

•

en:abnormal liver function tests (in some patients)

•

en:abnormal karyotype in 3 patients involving distal 6p

•

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

•

en:abnormal extrarenal response to ddavp (no increase in von willebrand factor or factor viii)

•

en:'rectilinear profiles' ultrastructurally in cells

•

en:vitamin b12 deficiency (in some patients)

•

en:type iii collagen defect

•

en:transient neonatal hypoglycemia (2p21del)

•

en:subtelomeric deletion of chromosome 16p

•

en:oestradiol decreased

•

en:serum testosterone decreased

•

en:serum creatine kinase may be normal or elevated

•

en:serum chloride level decreased (finding)

•

en:serum ammonia increased

•

en:sce normal in heterozygotes

•

en:reduced platelet glycoprotein ib complex

•

en:predominance of the d-stereoisomer

•

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

•

en:phytanic acid increased

•

en:increased serum and urinary lactate

•

en:partial deficiency of factor xiii(c)

•

en:partial deficiency of factor xi(c)

•

en:parathyroid hormone level increased

•

en:oligospermia or azoospermia

•

en:increased serum creatine kinase, mild

•

en:hypoproteinemia due to hypercatabolism

•

en:increased serum alpha-mannosidase

•

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

•

en:dhea sulfotransferase below limit of detection

•

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

•

en:deficiency of prolidase activity in erythrocytes, leukocytes, or fibroblasts

•

en:decreased triiodothyronine level

•

en:decreased tetrasialo-transferrin

•

en:decreased serum luteinizing hormone (lh)

•

en:decreased scad activity

•

en:decreased plasma glycine

•

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

•

en:decreased or absent serum citrulline

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:decreased fibroblast beta-hexosaminidase

•

en:decreased apoa-i and apoa-ii

•

en:elevated androstenedione

•

en:decreased activity of triosephosphate isomerase

•

en:decreased activity of dihydrofolate reductase

•

en:decreased acid beta galactosidase protein and activity

•

en:coagulopathy (inr = 2.2 - 3.5)

•

en:cellular arrest at g2 of the cell cycle

•

en:argininosuccinic aciduria

•

en:absent axonal flare response to intradermal histamine injection

•

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

•

en:abnormal isoelectric focusing of serum transferrin (type 1 pattern) loss of complete n-glycans

•

en:abnormal igfr1 function

•

en:5-hiaa csf may be normal or decreased

•

en:4-hydroxyphenyllactic aciduria

•

en:amorphous hyaline substance (skin biopsy and visceral organs)

•

en:dilated rough endoplasmic reticulum (rer)

•

en:elevated fasting triglycerides (seen in heterozygotes as well)

•

en:increased renal tubular phosphate reabsorption

•

en:homocystinuria (in some patients)

•

en:increased long-chain acylcarnitine

•

en:impaired oxidation of pyruvate

•

en:immotile or weakly motile cilia

•

en:iga antiendomysial antibodies (ema)

•

en:hypomethylation of satellite repeats on chromosome 1, 9, and 16

•

en:hypokalemia occurs during paralytic attacks

•

en:hypocitraturia

•

en:hypocalcemia, transient

•

en:hypoalbuminemia (in 83%)

•

en:hyperuricemia

•

en:hyperprolinemia (5-10 times normal)

•

en:hypercalciuria

•

en:hyperbilirubinemia

•

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

•

en:elevated mchc

•

en:glycosuria

•

en:generalized amyloid deposition

•

en:fluorescence of red blood cells by uv microscopy

•

en:fibroblasts show decreased mitochondrial complex v activity

•

en:fibroblasts attach poorly

•

en:fatty alcohol:nad+ oxidoreductase deficiency in leukocytes and fibroblasts

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:elevated urine ceramide levels

•

en:elevated urinary phosphoethanolamine

•

en:elevated urinary mevalonic acid

•

en:elevated total cholesterol (seen in heterozygotes as well)

•

en:elevated serum parathyroid hormone (pth) level

•

en:elevated resting serum lactate, increased with exercise

•

en:absent tyrosinase activity

•

en:decreased n-acetylglucosamine-1-phosphotransferase (glcnac - phosphotransferase) using lysosomal enzymes

•

en:antineutrophil cytoplasmic antibody

•

en:liver function tests normal

•

en:normal concentration of parathyroid hormone

•

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

•

en:mild hyperammonemia

•

en:mildly elevated creatine phosphokinase

•

en:mean platelet volume (mpv) 12.6fl

•

en:lysyl hydroxylase deficiency

•

en:low to normal serum calcium

•

en:low to low-normal magnesium

•

en:low to absent apo a-i (detroit 107680.0011)

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:low or absent iga levels

•

en:low density lipoprotein increased

•

en:loss of galactose and sialic acid from multiple branches of complex type n-glycans (in some patients)

•

en:karyomegaly may be found in other visceral organs

•

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

•

en:intermittent ethylmalonic aciduria

•

en:inner and outer dynein arm defects, variable

•

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

•

en:increased urinary 3-methylglutaconic acid

•

en:increased total bilirubin may occur

•

en:increased susceptibility to ebv infection

•

en:increased serum thymidine

•

en:increased serum serotonin in 25%

•

en:increased serum pyruvate in acute stage

•

en:increased serum lactate (mild)

•

en:increased serum lactate, particularly after exercise

•

en:increased serum gamma-ggt (231950)

•

en:increased serum ferritin (in some patients)

•

en:normal free urinary cortisol

•

en:normal phytanic acid

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:slightly increased serum alkaline phosphatase may occur

•

en:very low igg

•

en:antiribonuclear protein positive

•

en:very low density lipoprotein increased

•

en:variably increased serum creatine kinase

•

en:upregulation of alpha-interferon-stimulated genes

•

en:undetectable serum l-transferrin (homozygous patient)

•

en:undetectable plasma dbh activity

•

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

•

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

•

en:transferrin saturation increased

•

en:thyroid dyshormonogenesis 5

•

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

•

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

•

en:skeletal muscle shows decreased activities of mitochondrial respiratory complexes i, iii, iv, and v

•

en:no chromosomal breakage

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:round, yellow-brown dha urine crystals

•

en:renin decreased

•

en:reduced (50%) activity of protoporphyrinogen oxidase (proto oxidase)

•

en:rare occurrences of 9+0 or 8+1 cilia

•

en:prolinuria

•

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

•

en:phytanic acid accumulation

•

en:patient cells show increased chromosome breakage

•

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

•

en:paraproteinemia

•

en:pancreatic trypsinogen deficiency

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:increased serum erythropoietin (epo, 133170)

•

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

•

en:increased serum butyryl carnitine

•

en:decreased fibroblast iduronate sulfatase

•

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

•

en:deficiency or absence of p22-phox protein

•

en:defective mitochondrial respiratory enzyme activity

•

en:decreased t cells

•

en:decreased serum trypsinogen

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased serum 25-hydroxyvitamin d

•

en:decreased secretion of igf1 in response to gh administration

•

en:decreased phytanic acid oxidase activity

•

en:decreased phgdh activity (fibroblasts)

•

en:decreased mitochondrial complex v assembly

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased hexokinase activity in red blood cells

•

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

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

en:decreased beta-galactosidase activity

•

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

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

en:decreased activity of 2-methyl-3-hydroxybutyryl co-a dehydrogenase

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:citrullinemia

•

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

•

en:characteristic spheroids can be found in peripheral tissue, such as skin and conjunctiva

•

en:carnitine deficiency

•

en:calcium normal

•

en:increased rai (radioactive iodine) uptake

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

en:antithrombin iii deficiency

•

en:deficiency or absence of p91-phox protein

•

en:decreased or absent ciliary motility

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:hla-dqw6 association (dqb1*0602)

•

en:increased interferon-alpha signal

•

en:increased gamma-interferon

•

en:increased di- and asialo-transferrin characteristic of type 1 pattern

•

en:disseminated intravascular coagulation

•

en:increased csf pyruvic acid

•

en:increased cholesterol

•

en:increased biliverdin in bodily fluids

•

en:increased acetoacetate: beta-hydroxybutyrate ratio (group b)

•

en:increased 18-ohb to aldosterone ratio

•

en:iiga and igg antigliadin antibodies (aga)

•

en:hyponatremic dehydration, rarely

•

en:hypoalbuminemia

•

en:hyperlactemia

•

en:hypercholesterolemia (disorder)

•

en:increased csf threonine

•

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

•

en:elevated serum levels of 2-prime deoxyadenosine

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:dyslipidemia

•

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

•

en:elevated gastrin concentration

•

en:elevated plasma acth

•

en:elevated androstenedione and testosterone

•

en:elevated serum long-chain fatty acids

•

en:fumarase deficiency

•

en:gamma-glutamylcysteine deficiency

•

en:glucose-6-phosphate deficiency

•

en:exercise-induced myoglobinuria

•

en:increased urinary glycosphingolipids, particularly globotriaosylceramide

•

en:increased soluble il2 receptor

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased urinary 2-hydroxybutyrate

•

en:increased urinary 2-methylacetoacetic acid

•

en:increased urinary orotic acid (in some patients)

•

en:increased urinary magnesium

•

en:increased urinary phospholipids

•

en:increased urinary sulfatides

•

en:intermittent increase of urinary ethylmalonic acid

•

en:increased serum total cholesterol

•

en:increased urinary tiglylglycine

•

en:increased serum uric acid

•

en:increased plasma pristanic acid

•

en:immediate (type i) skin test reactivity

•

en:increased serum lactate hydrogenase

•

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

•

en:increased serum creatine kinase during episodes

•

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

•

en:increased pyruvate in serum and csf

•

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

•

en:increased iga level

•

en:increased free erythrocyte protoporphyrin

•

en:increased csf histidine

•

en:increased 18-hydroxycortisol

•

en:inappropriately increased urine osmolality

•

en:iron deficiency

•

en:impaired carnitine uptake in muscle, heart, kidney, fibroblasts, and lymphocytes

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:systemic amyloidosis may occur

•

en:irregularly shaped sperm heads

•

en:pcs involves most of all chromosomes of a metaphase

•

en:hypophosphatemia (less common)

•

en:triglyceride decreased

•

en:submucosal macrophages filled with sphingolipids

•

en:structural abnormalities seen on chromosome analysis

•

en:shortened metaphase

•

en:severely decreased activity of beta-1,4-mannosyltransferase (less than 10% of normal)

•

en:serum ferritin normal

•

en:propionic acidemia

•

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

•

en:platelet aggregation decreased

•

en:plasma triglycerides increased

•

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

•

en:phosphate normal

•

en:patient fibroblasts and muscle show decreased activities of mitochondrial complexes i, iii, and iv

•

en:isovalericaciduria

•

en:normal urinary 17-ketosteroids

•

en:normal serum levels of gamma-ggt (231950)

•

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

•

en:normal-to-decreased plasma glycine (fasting)

•

en:monoclonal gammopathy

•

en:metachromatic deposits (sulfatide-containing) in central and peripheral nervous systems and visceral organs

•

en:markedly reduced iga levels

•

en:lysyl pyridinoline/hydroxylysyl pyridinoline (lp/hp) ratio approximately 1

•

en:low total serum protein

•

en:low serum magnesium

•

en:low serum levels of branched-chain amino acids

•

en:low or absent growth hormone (gh)

•

en:low csf creatinine

•

en:lactic acidemia (2p21del)

•

en:igm deficiency

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:hypoketotic hypoglycemia

•

en:decreased circulating renin level

•

en:deficiency of creatine phosphate in brain

•

en:defective glcnac-pi synthesis

•

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

•

en:decreased testosterone level

•

en:decreased serum iga

•

en:decreased serum ferritin

•

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

•

en:decreased phk activity in liver

•

en:decreased or absent glycogen branching enzyme activity

•

en:decreased intracellular fmr protein

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:decreased erythrocyte plasmalogen

•

en:decreased csf pyridoxal

•

en:decreased circulating aldosterone level

•

en:diagnosis by exposing muscle biopsy to caffeine and/or halothane

•

en:decreased asparagine levels (in some patients)

•

en:decreased activity of glycosylceramidase, galactosylceramidase, ceramidase, and other lysosomal enzymes

•

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

•

en:cystathionine beta-synthase deficiency disease

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:amyloidosis, (iowa type 107680.0010, nonneuropathic 107680.0016)

•

en:alkaline phosphatase normal

•

en:aldosterone level increased above normal

•

en:absence of chylomicrons in lymph and plasma

•

en:abnormal urinary oligosaccharides

•

en:abnormal serum glycoproteins

•

en:3-methylglutaconic aciduria (3-mgc)

•

en:two alternative chimeric oncogene products called p210(bcr-abl) and p185(bcr-abl)

•

en:deficiency or absence of p22-phox (608508) protein

•

en:direct hyperbilirubinemia

•

en:hypocalciuria or normocalciuria

•

en:fragmentation of the mitochondrial network

•

en:hypertriglyceridemia (rare)

•

en:hyperthreoninuria

•

en:hypercholesterolemia

•

en:hyperbilirubinemia in those with liver failure

•

en:homocysteinemia

•

en:high ornithine

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:hemizygous deletion at 4p16.3

•

en:glomerular filtration rate decreased

•

en:glcnac-transferase ii deficiency in fibroblast and mononuclear cells

•

en:gaucher disease, type 1

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

en:foam cells in bone marrow and renal glomeruli

•

en:elevated alkaline phosphatase (varies from 1.3-20 times age-adjusted upper limit of normal)

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

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

•

en:enzyme replacement therapy has not been effective

•

en:elevated urinary ornithine, lysine, arginine

•

en:elevated urinary 3-methylglutaconate

•

en:elevated testosterone

•

en:elevated sweat chloride

•

en:elevated serum transaminases during infections

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:elevated plasma luteinizing hormone (lh)

•

en:elevated fasting glucose

•

en:elevated crp

•

en:elevated calcitonin

•

en:elevated ast (aspartate aminotransferase) and cpk (creatine phosphokinase)

•

en:tsh decreased

•

en:elevated acth

•

en:tyrosine loss

•

en:increased disialotransferrin and asialotransferrin levels

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:low serum acth

•

en:low or normal serum erythropoietin

•

en:low or absent follicle stimulating hormone (fsh)

•

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

•

en:iron overload (in some patients)

•

en:interstitial or terminal deletion of 18q

•

en:intermittent severe hypoglycemia (in some patients)

•

en:intermittent 3-methylglutaconic aciduria

•

en:increased urine oligosaccharides

•

en:increased serum bilirubin (in some patients)

•

en:increased plasma progastrin

•

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

•

en:increased circulating renin level

•

en:monomeric igm

•

en:increased chromosomal breaks in response to cross-linking agents and ionizing radiation

•

en:increased bone serum acid phosphatase

•

en:increased beta-alanine (in 1 of 2 patients)

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

en:impaired o-glycosylation

•

en:impaired creatine uptake in fibroblasts

•

en:igg deficiency

•

en:hyposialylation of o-linked serum glycans

•

en:hypomagnesemia

•

en:hypoglycosylated serum transferrin

•

en:hypoglycemia, intermittent

•

en:hypoglycemia

•

en:hypogammaglobulinemia, profound

•

en:mild-moderate prolonged bleeding time

•

en:myoglobinuria after exertion

•

en:hyperlysinemia

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

en:vitamin k deficiency

•

en:variable respiratory chain enzyme deficiency

•

en:type 1 collagen overmodification

•

en:transient hyperlipidemia

•

en:transcobalamin ii deficiency

•

en:thyroid hormone organification defect

•

en:ten percent of cases are secondary to submicroscopic deletions of 16p13.3 detectable by fish

•

en:serum triglycerides normal

•

en:serum transferrin glycosylation is normal

•

en:serum creatine kinase may be normal or increased

•

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

•

en:reduced iga

•

en:rapid high rai (radioactive iodine) uptake and turnover

•

en:normal cerebrospinal fluid

•

en:pt normal

•

en:prothrombin time increased

•

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

•

en:polymorphonuclear leukocytosis, episodic

•

en:no ketonuria

•

en:no evidence of common prenatal infections

•

en:no dicarboxylic aciduria

•

en:normal serum phytanic and pristanic acid

•

en:normal serum parathyroid hormone (pth)

•

en:normal serum cobalamin (vitamin b12)

•

en:normal pyridinoline excretion in urine

•

en:normal lactate (hcs)

•

en:normal igg levels

•

en:normal csf neurotransmitters

•

en:hypocalcemia

•

en:mildly elevated urinary mevalonic acid

•

en:hyperinsulinemia

•

en:contiguous gene deletion syndrome

•

en:decreased mitochondrial complex iii activity (in fibroblasts of 1 patient)

•

en:decreased metabolism of thiopurine drugs

•

en:decreased hdl cholesterol

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:decreased dna excision repair

•

en:decreased copper, iron, zinc

•

en:decreased antithrombin iii (rare)

•

en:decreased activity of thymidine phosphorylase

•

en:decreased activity of succinic semialdehyde dehydrogenase (ssadh, aldh5a1), less than 5% of control values

•

en:decreased activity of 3-hydroxyacyl-coa dehydrogenase in various tissues (liver, muscle, fibroblasts)

•

en:decreased acetyl-coa carboxylase activity

•

en:variable defects of inner dynein arms

•

en:creatine kinase normal between episodes

•

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

•

en:decreased or absent histidase activity

•

en:chromosomal mosaicism in cultured cells

•

en:agammaglobulinemia

•

en:absence of hepatic udp-glucuronyl-transferase

•

en:abnormal serum transferrin pattern by isoelectric focusing (hyposialylation)

•

en:abnormal liver enzymes in those with hepatic cysts or fibrosis

•

en:abnormal liver enzymes (1 patient)

•

en:abnormal isoelectric focusing of serum transferrin

•

en:abnormal eeg in 25% hospitalized patients

•

en:abnormal cartilage collagen on em

•

en:2-aminoadipic aciduria

•

en:very low igm

•

en:very long chain fatty acid accumulation

•

en:variegated translocation mosaicism in cultured fibroblasts

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:decreased mitochondrial complex iii activity in muscle

•

en:cytoplasmic lamellar inclusions consistent with neuronal ceroid lipofuscinosis (in some patients)

•

en:decreased plasma serine

•

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

•

en:hydrocortisone decreased

•

en:high serum inosine levels

•

en:high nonceruloplasmin-bound serum copper

•

en:hereditary fructose intolerance

•

en:glycogen storage disease type vii

•

en:glutathione deficiency

•

en:female carriers show markedly skewed x inactivation

•

en:fasting chylomicronemia

•

en:excess protoporphyrin in bile and feces but not in urine

•

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

•

en:elevated urinary 3-methylglutarate

•

en:elevated sed rate

•

en:elevated plasma galactose (galactosemia)

•

en:hyperbilirubinemia, non-hemolytic unconjugated (may rise with fasting or dehydration)

•

en:elevated 2-ketoglutarate (urine)

•

en:decreased uros activity (1 patient)

•

en:decreased serum and muscle coenzyme q

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:decreased serum rt3

•

en:decreased thyroxine level

•

en:decreased tissue total and free carnitine

•

en:defective dna repair after ultraviolet radiation damage

•

en:defect in dna repair

•

en:deficiency of laminin in basement membranes

•

en:deficiency of saposins a, b, c, and d

•

en:delayed plasma clearance of unconjugated bromsulphthalein, an anionic diagnostic dye

•

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

•

en:duplication or deletion at 11p15.5

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased serum vitamin b12

•

en:increased tissue long-chain acylcarnitines

•

en:increased triglycerides (less common)

•

en:increased uric acid level

•

en:loss of heterozygosity in giant cell astrocytomas, angiomyolipomas, rhabdomyomas

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:increased urinary uracil

•

en:increased urinary vanillylmandelic acid (vma)

•

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

•

en:keratan sulfaturia in some patients

•

en:kypokalemia

•

en:increased serum lactate dehydrogenase (ldh)

•

en:increased serum thrombopoietin may occur

•

en:increased levels of 3-alpha-7-alpha-12-alpha-trihydroxy-5-beta-cholestanoic acid (thca) in bile, urine, and serum

•

en:increased serum c26-bile-acid intermediates

•

en:increased serum alanine (1 patient)

•

en:increased serum, urinary, and csf saccharopine (in some patients)

•

en:increased plasma renin activity

•

en:increased plasma levels of bile acid intermediates

•

en:increased levels of dihydroxyacetone phosphate (dhap) in tissues and red cells

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:increased growth hormone (in 1 of 2 patients)

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

en:increased disialo- and asialotransferrin

•

en:increased csf lactate during acute episodes

•

en:increased biopterin in urine and csf

•

en:increased alpha-fetoprotein (1 patient)

•

en:increased 11-deoxycorticosterone

•

en:low-to-normal csf lactate

•

en:secondary decrease of plasma free carnitine

•

en:low absolute lymphocyte count

•

en:normal sedimentation rate

•

en:hyperphenylalaninemia

•

en:rheumatoid factor positive (finding)

•

en:reduced erythrocyte adenosine deaminase activity

•

en:pyrimidinuria

•

en:presence of vacuoles on muscle biopsy

•

en:presence of cytochrome b(-245)

•

en:peroxisome deficiency

•

en:patient cells show defective transcription-coupled and global genome nucleotide excision repair (ner)

•

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

•

en:partial deficiency of factor xi (less common)

•

en:no hyperphenylalaninemia

•

en:no elevation of free fatty acids

•

en:normal to prolonged bleeding time

•

en:normal to elevated total plasma carnitine

•

en:normal lysyl oxidase activity

•

en:low copper and ceruloplasmin

•

en:normal iga levels

•

en:normal dermal hydroxylysine content

•

en:normal complex ii activity

•

en:neonatal hypocalcemia

•

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

•

en:mild eosinophilia may occur

•

en:mild elevation of transaminases

•

en:mildly increased serum creatine kinase (in some patients)

•

en:may have increased serum parathyroid hormone (pth)

•

en:markedly elevated sodium in urine, sweat, saliva, and stool

•

en:low serum alkaline phosphatase in heterozygotes

•

en:low maximal oxygen uptake on exercise testing

•

en:low leukocyte alkaline phosphatase activity

•

en:low fasting glucose (in some patients)

•

en:hypocalcemia (male)

•

en:abnormal liver enzymes, episodic

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

en:decreased activity of 3-methylcrotonyl-coa carboxylase (less than 2%)

•

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

•

en:decreased levels of the e2 subunit protein

•

en:decreased levels of coenzyme q10 in skeletal muscle (5-35%)

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:decreased iga, igg, igm

•

en:decreased glomerular filtration rate (gfr)

•

en:decreased dna polymerase-gamma (polg, 174763) activity

•

en:decreased cytochrome c oxidase activity in skin fibroblasts, liver, and skeletal muscle

•

en:decreased csf serine

•

en:decreased c3 antigen

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:decreased agt activity

•

en:decreased activity of ppt1

•

en:cytosolic phosphoenolpyruvate carboxykinase deficiency

•

en:decreased or normal serum c3

•

en:cytoplasmic lamellar concentric inclusions

•

en:creatine kinase levels may normalize with disease progression

•

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

•

en:borderline elevated low-density lipoprotein

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

en:blood pyruvic acid increased

•

en:bicarbonaturia

•

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

•

en:affected mother has reduced zinc levels in breast milk (may be up to 40% less than normal breast milk)

•

en:acth normal

•

en:absence of outer dynein arms

•

en:abnormal liver function tests (less common)

•

en:serum iron low (finding)

•

en:abnormal cardiolipin subspecies composition

•

en:decreased methylmalonyl-coa mutase activity

•

en:decreased peroxisomal fatty acid beta-oxidation

•

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

•

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

•

en:hydroxyprolinuria

•

en:high serum osmolality

•

en:high plasma citrulline (100-300 micromolar)

•

en:high-normal plasma triglyceride concentration (in heterozygotes)

•

en:hereditary factor x deficiency

•

en:hepatic ornithine transcarbamylase deficiency

•

en:hepatic glycine cleavage defect

•

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

•

en:gonadotrophin increased

•

en:glycogen storage disease type vi

•

en:glycogen accumulation in both liver and muscle

•

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

•

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

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

en:elevated pregnenolone

•

en:decreased serum free thyroxine

•

en:elevated plasma follicle stimulating hormone (fsh)

•

en:elevated plasma cholestanol

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:elevated long-chain acylcarnitine species (in some patients)

•

en:elevated hdl (2-6x normal) in homozygotes

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:elevated 7-dehydrocholesterol

•

en:elevated 3-hydroxypropionic acid

•

en:elevated 17-hydroxyprogesterone

•

en:electrolyte disturbances from intractable diarrhea

•

en:delta-1-pyrroline-5-carboxylate dehydrogenase activity decreased in fibroblasts or leukocytes

•

en:deletion (78kb to 1mb) of chromosome 8q24.3 including the scrib (607733) and puf60 (604819) genes

•

en:decreased urinary calcium and phosphate excretion

•

en:decreased transcobalamin i in saliva, serum, gastric juice, and cerebrospinal fluid

•

en:serum creatinine raised

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:serum osmolality decreased

•

en:increased serum vascular endothelial growth factor (vegf, 192240)

•

en:low or absent luteinizing hormone (lh)

•

en:low level of c4 and c2

•

en:severe hypernatremia in neonatal period

•

en:low 25-oh-vitamin d level

•

en:little to absent aspartylglucosaminuria activity

•

en:lactate high

•

en:increased urinary tricarboxylic acid intermediates

•

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

•

en:increased urinary o-linked sialopeptides

•

en:increased urinary hga

•

en:increased urinary adenosine

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:increased succinyladenosine (s-ado) in serum, urine, and csf

•

en:increased serum unconjugated bilirubin

•

en:low to very low hdl cholesterol

•

en:increased serum thyrotropin

•

en:increased serum pyruvate

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:increased serum lactate during metabolic crisis

•

en:increased serum ige

•

en:increased serum deoxyuridine

•

en:increased serum creatine kinase (patient a)

•

en:increased serum citrulline (group b)

•

en:increased serum 18-hydroxycorticosterone (18-ohb)

•

en:increased plasma lactate

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:increased peripheral blood monocytes

•

en:low plasma methionine

•

en:marked elevation of serum c-reactive protein level (crp 123260)

•

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

•

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

•

en:vitamin b12 deficiency (uncommon)

•

en:undetectable epinephrine (adrenaline) in plasma, urine, csf

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

en:serum phosphate concentration below normal

•

en:serum copper decreased

•

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

•

en:resistance to activated protein c due to factor v leiden

•

en:reduced electroretinogram (scotopic > photopic) becoming extinguished in older patients

•

en:raised c-reactive protein

•

en:protein total decreased

•

en:proper antibody response to protein vaccinations

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:platelet factor 4 decreased

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:no mucopolysacchariduria

•

en:no increase in urinary cyclic amp (camp) in response to vasopressin or ddavp

•

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

•

en:normal sweat electrolytes

•

en:normal serum and mucosal iga

•

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

•

en:normal lysl hydroxylase activity

•

en:normal ellsworth-howard test, normal urinary camp response to parathyroid hormone (pth) administration

•

en:normal baseline cortisol

•

en:normal apoa-ii levels in homozygotes

•

en:normal activity of von willebrand factor-cleaving protease

•

en:mitochondrial respiratory chain defects (skeletal muscle, fibroblasts)

•

en:mitochondrial complex i deficiency in muscle

•

en:mildly increased serum lactate

•

en:increased l-2-hydroxyglutaric acid in urine, serum, and csf

•

en:low free carnitine

•

en:increased ferritin

•

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

•

en:decreased plasma gonadotrophin

•

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

•

en:decreased or normal serum factor b

•

en:decreased or absent pts activity

•

en:decreased number of igf1 receptors (igf1r, 147370) on cell surface

•

en:decreased nasal nitric oxide (in some patients)

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

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

•

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

•

en:decreased grhpr activity

•

en:decreased fbp1 enzyme activity

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:decreased cpt1 activity

•

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

•

en:decreased serum ceruloplasmin

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

en:decreased activity of cytosolic acetoacetyl-coa thiolase (acat2, 100678)

•

en:decreased activities of multiple sulfatases

•

en:d-2-hydroxyglutaric aciduria

•

en:alpha fetoprotein increased

•

en:absent 7-dehydrocholesterol

•

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

•

en:abnormal columnization of chondrocytes

•

en:5-oxoprolinase deficiency

•

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

•

en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine

•

en:increased erythrocyte sedimentation rate, episodic

•

en:sweat test normal

•

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

•

en:decreased s-ado:saicar ratio

•

en:transferase deficiency galactosemia

•

en:decreased serum factor b (atypical hus)

•

en:glycogen storage disease type v

•

en:decreased udp-glcnac

•

en:increased csf glycine

•

en:incomplete n-glycosylation of cellular proteins

•

en:hyperprolinemia (10-15 times normal)

•

en:hyperoxaluria

•

en:hyperchloremia (mean 109 mm)

•

en:hyperammonemia, episodic

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:high sweat sodium and chloride

•

en:heteroplasmic partial duplication of mtdna

•

en:hereditary angioedema

•

en:hepatic lipase deficiency (disorder)

•

en:hepatic gamma-cystathionase deficiency

•

en:glycosuria (less common)

•

en:increased csf and plasma gaba

•

en:globulin gamma serum plasma increased result

•

en:elevated creatine kinase (in some patients)

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:decreased urinary sulfate

•

en:direct coombs test negative

•

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

•

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

•

en:deficiency of phosphatidylinositol (4,5) bisphosphate 5-phosphatase (ptdins(4,5)p(2) 5-phosphatase) in cultured fibroblasts

•

en:elevated plasma estrogen

•

en:elevated pyruvate (in most patients)

•

en:elevated serum phosphate in heterozygotes

•

en:elevated urinary hyaluronic acid levels

•

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

•

en:elevated plasma phytanic acid

•

en:ethylmalonic aciduria

•

en:leukocytosis

•

en:keratan sulfate excretion in urine that decreases with age

•

en:ketosis

•

en:lactic acidosis

•

en:large spermatozoa

•

en:low plasma tryptophan (inflammatory type b)

•

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

•

en:low plasma free and total carnitine

•

en:methioninuria

•

en:methylglutaconic aciduria, mild

•

en:methylmalonic aciduria

•

en:microduplication of chromosome 5p13

•

en:isovaleric acidemia

•

en:increased urinary cystine, arginine, lysine, and ornithine (hcs and 2p21del)

•

en:iron deposition in basal ganglia, liver, pancreas, visceral organs detectable by ct and mri

•

en:iodide organification defect

•

en:intracellular granular material on ultrastructural analysis

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:increased urinary thymine

•

en:increased urinary glycerol

•

en:increased serum methionine (reported in 2 cases)

•

en:increased serum alpha-interferon (ifna1, 147660)

•

en:increased serum alkaline phosphatase (in some patients)

•

en:increased serum, urinary, and csf lysine

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased plasma phospholipids

•

en:increased levels of carcinoembryonic antigen

•

en:near-complete absence of vldl peak on density gradient ultracentrifugation (in some patients)

•

en:mild to moderate hyperammonemia

•

en:serum calcium elevated

•

en:nephrotic syndrome

•

en:serum pristanic acid increased

•

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

•

en:urine odor, maple syrup

•

en:urinary excretion of retinol-binding proteins (rbp) and vitamin d-binding proteins (dbp)

•

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

•

en:tryptophanuria

•

en:transient neonatal hypocalcemia (2p21del)

•

en:telomere shortening

•

en:t-cell deficit

•

en:stimulation of sympathetic fibers results in release of dopamine, not norepinephrine

•

en:shortened telomeres (in 1 of 2 patients)

•

en:serum testosterone level normal

•

en:serum prolactin increased

•

en:serum mitochondrial autoantibodies

•

en:neutrophilia, both basal and during infections

•

en:serum and csf lactate may be increased

•

en:rheumatoid factor negative

•

en:reduced unsaturated serum cobalamin binding capacity

•

en:proteinuria

•

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

•

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

•

en:premature separation of centromeric heterochromatin

•

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

•

en:patient cells show abnormal mitochondrial morphology

•

en:parathyroid hormone normal

•

en:parathyroid hormone (pth) absent to low

•

en:occasional hypomagnesemia

•

en:normal plasma total homocysteine

•

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

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Génériques

[F] [H]

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en:absent

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6845213 • caches: c1=16 c2=1608 c3=2

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