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

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

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C3807563

Associations d'idées

[F]

›

1000

en:thyroid dyshormonogenesis 5

•

en:increased urinary, plasma, and csf n-carbamyl-beta-alanine

•

en:myelin basic protein measurement, spinal fluid

•

en:calcium normal

•

en:cells show increased sensitivity to ionizing radiation

•

en:decreased activity of pyruvate dehydrogenase complex

•

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

•

en:increased serum arylsulfatase a.

•

en:increased serum methionine

•

en:decreased thrombospondin

•

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

•

en:decreased hexokinase activity in red blood cells

•

en:elevated plasma stigmasterol

•

en:hb h erythrocyte inclusions

•

en:impaired platelet aggregation

•

en:increased serum lipoproteins

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:liver transaminases normal to slightly increased

•

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

•

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

•

en:elevated urinary ornithine, lysine, arginine

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:decreased ubiquinone-10

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:decreased dermal hydroxylysine content

•

en:decreased activity of mitochondrial complex i

•

en:anti-tissue transglutaminase antibodies (anti-ttg)

•

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

•

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

•

en:farber lipogranulomatosis

•

en:serum transaminase increased

•

en:lipopigment in extraneuronal cells

•

en:increased urinary glycerol

•

en:prolonged bleeding time

•

en:reduced igg levels, particularly igg2 subclass

•

en:low to very low hdl cholesterol

•

en:low serum alpha-fetoprotein (recessive)

•

en:increased urinary tricarboxylic acid intermediates

•

en:gamma-glutamylcysteine deficiency

•

en:decreased serum cobalamin

•

en:decreased activity of complement factor d

•

en:cutaneous anergy

•

en:elevated serum lactate

•

en:normal csf 5-hydroxyindoleacetic acid (5-hiaa)

•

en:low plasma triglyceride level

•

en:increased urinary sulfite

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:galactosemia

•

en:3-methylglutaconic aciduria (3-mgc)

•

en:elevated lathosterol

•

en:decreased nasal nitric oxide

•

en:decreased dihydroxyacetone phosphate acyltransferase (dhap-at) activity

•

en:decreased beta-thromboglobulin

•

en:abnormal igfr1 function

•

en:pyrimidinuria

•

en:normal plasma renin

•

en:vacuolated lymphocytes

•

en:urocanase deficiency

•

en:increased biliverdin in bodily fluids

•

en:4-hydroxyphenylactic aciduria

•

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

•

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

•

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

•

en:increased serum butyryl carnitine

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:igg deficiency

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

en:elevated serum long-chain fatty acids

•

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

•

en:decreased csf homovanillic acid (hva)

•

en:absent igg2 subclass

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:hepatic argininosuccinase deficiency

•

en:normal b12

•

en:negative nitroblue tetrazolium (nbt) reduction test

•

en:irregularly shaped sperm heads

•

en:increased 18-hydroxycortisol

•

en:decreased b cells

•

en:elevated plasma insulin

•

en:distal xp22.3 segmental monosomy

•

en:decreased sulfite oxidase activity

•

en:chromosomal rearrangement

•

en:absent or abnormal thyroglobulin

•

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

•

en:normal isoelectric focusing of serum transferrin

•

en:decreased levels of certain coagulation factors

•

en:pentagastrin stimulation test

•

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

•

en:prolonged prothrombin and partial thromboplastin times

•

en:upregulation of alpha-interferon-stimulated genes

•

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

•

en:normal igg levels

•

en:increased erythrocyte sedimentation rate, episodic

•

en:undetectable plasma dbh activity

•

en:homocitrullinuria

•

en:variable respiratory chain enzyme deficiency

•

en:decreased insulin receptor binding

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:transient eosinophilia in first decade

•

en:elevated serum levels of 2-prime deoxyadenosine

•

en:median mean platelet volume (mpv) 20fl

•

en:variable defects of inner dynein arms

•

en:serum creatine kinase may be increased

•

en:pcs involves most of all chromosomes of a metaphase

•

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

•

en:median mean platelet volume (mpv) 12.5fl

•

en:lactic acidemia (2p21del)

•

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

•

en:abnormal nuclear morphology

•

en:decreased secretion of igf1 in response to gh administration

•

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

•

en:elevated 3-methylcitric acid

•

en:diaminoaciduria (arginuria, lysinuria, cystinuria, ornithinuria)

•

en:increased serum gamma-ggt (231950)

•

en:serum prolactin increased

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

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

•

en:low acth level

•

en:serum triglycerides normal

•

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

•

en:immotile cilia

•

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

•

en:foam cells in visceral organs and cns

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

en:hyperammonemia

•

en:increased serum osteocalcin

•

en:increased csf protein during acute illness

•

en:hyperphosphatemia, transient

•

en:hypercalciuria

•

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

•

en:high serum osmolality

•

en:elevated il1-beta

•

en:decreased serum leptin

•

en:decreased levels of cpt2 protein

•

en:mitochondrial deletions

•

en:increased urinary acetoacetic acid

•

en:very low leptin level

•

en:multi-tailed spermatozoa

•

en:hypertryptophanemia

•

en:normal serum phosphorus

•

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

•

en:some patients carry a deletion of minimum of 8.1 mb on 2q32-q33

•

en:hypokalemia

•

en:serum mitochondrial autoantibodies

•

en:female carriers show markedly skewed x inactivation

•

en:deficiency of laminin in basement membranes

•

en:decreased methylcobalamin (mecbl)

•

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

•

en:alpha 1 foetoprotein amniotic fluid increased

•

en:elevated resting serum lactate, increased with exercise

•

en:increased serum prostaglandin e2

•

en:increased plasma pristanic acid

•

en:increased 18-oxocortisol

•

en:heparan sulfate excretion in urine

•

en:elevated urine ceramide levels

•

en:absent alkyl-dhap synthase activity

•

en:elevated afp (endodermal sinus tumor)

•

en:defect in double-stranded dna repair

•

en:decreased mitochondrial nadp(h)

•

en:decreased fumarate hydratase activity

•

en:aminoaciduria (rare)

•

en:increased urinary oligosaccharides

•

en:increased urinary glycosphingolipids, particularly globotriaosylceramide

•

en:predominance of the d-stereoisomer

•

en:normal to elevated total plasma carnitine

•

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

•

en:secondary decreases in complex i and iv activity

•

en:normal tyrosinase

•

en:low serum calcium

•

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

•

en:hyperlipoproteinemia type i

•

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

•

en:decreased activities of multiple sulfatases

•

en:serum bicarbonate increased

•

en:serum alkaline phosphatase normal or mildly increased

•

en:routine liver function tests normal

•

en:reduced total and free carnitine in plasma and tissue

•

en:platelet count normal

•

en:mildly elevated hepatic enzymes

•

en:alpha-fetoprotein normal

•

en:cytogenetic deletion of the terminal region of chromosome 10 (del(10)(q23.3-qter))

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:deficiency of serum properdin p factor

•

en:enzyme replacement therapy has not been effective

•

en:hypoglycemia, fasting

•

en:increased serum acylcarnitines

•

en:increased serum glycine, leucine, isoleucine, valine

•

en:low or absent growth hormone (gh)

•

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

•

en:no increase of muscle lactate with ischemic exercise testing

•

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

•

en:oestradiol decreased

•

en:serum folate low

•

en:prothrombin time increased

•

en:normal urinary cyclic amp response to pth administration

•

en:transient neonatal hypocalcemia (2p21del)

•

en:csf pleocytosis, particularly of lymphocytes

•

en:cerebrospinal fluid lymphocytosis

•

en:secondary decrease of plasma free carnitine

•

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

•

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

•

en:low serum cortisol

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:increased urinary sulfatides

•

en:increased urinary uracil

•

en:intracellular accumulation of unesterified cholesterol

•

en:ketoses, metabolic

•

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

•

en:isovalericaciduria

•

en:long-chain dicarboxylic aciduria

•

en:low fasting glucose (in some patients)

•

en:low rai (radioactive iodine) uptake

•

en:increased urinary magnesium

•

en:increased fractional excretion of uric acid

•

en:increased serum lactate dehydrogenase (ldh)

•

en:increased urinary cyclic amp (camp) in response to ddavp administration

•

en:increased urinary 2-methylbutyryl glycine

•

en:increased urinary 2-methyl-3-hydroxybutyric acid

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased serum ferritin

•

en:increased serum bile acid concentration during pregnancy, resolves postpartum

•

en:increased serum and csf lactate

•

en:increased lactate: pyruvate ratio (group b)

•

en:increased il18

•

en:increased il-6

•

en:increased iga level

•

en:low to normal tsh (values may vary depending on the measurement methods used)

•

en:low serum levels of branched-chain amino acids

•

en:serum osmolality decreased

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:serum folate normal

•

en:abnormal urinary organic acids

•

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

•

en:abnormal liver enzymes, intermittent

•

en:abnormal cartilage collagen on em

•

en:5-alpha-reductase-2 enzyme deficiency

•

en:1.61- and 1.76-mb microduplication of 3q29

•

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

•

en:thrombocytopenia

•

en:submucosal macrophages filled with sphingolipids

•

en:smooth muscle antibodies positive

•

en:severely decreased carnitine palmitoyltransferase ii (cpt ii) activity (less than 10% of normal) in multiple tissues

•

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

•

en:proteinuria (type ii, congenital)

•

en:methylmalonic aciduria, mild

•

en:polyploid sperm heads

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:phospholipid antibody positive

•

en:phosphate normal

•

en:partial deficiency of factor xi (less common)

•

en:no metabolic abnormalities

•

en:normal serum complement levels

•

en:normal or increased serum phytanic acid

•

en:normal liver histology

•

en:normal blood lactate

•

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

•

en:mitochondria dna deletion

•

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

•

en:increased csf histidine

•

en:elevated white blood cell cystine

•

en:immediate (type i) skin test reactivity

•

en:decreased asparagine levels (in some patients)

•

en:decreased or absent glycogen branching enzyme activity

•

en:decreased numbers of t regulatory cells

•

en:decreased mitochondrial complex iii activity (in liver, muscle, and fibroblasts)

•

en:decreased methionine synthase activity

•

en:decreased levels of the e2 subunit protein

•

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

•

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

•

en:decreased erythrocyte plasmalogen

•

en:decreased csf serine

•

en:decreased csf ferritin despite normal serum ferritin levels

•

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

•

en:decreased circulating renin level

•

en:decreased adenosylcobalamin

•

en:decreased serum iga

•

en:decreased acid sphingomyelinase activity (less than 5%)

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:coombs positive hemolytic anemia

•

en:cilia show inner and outer dynein arm defects

•

en:bile contains cholesterol crystals

•

en:aneuploidy of the x chromosome

•

en:alkaline phosphatase decreased

•

en:adenylosuccinase deficiency (finding)

•

en:acute-phase reactants during fever

•

en:accumulation of guanidinoacetate in brain

•

en:absent platelet agglutination in presence of ristocetin

•

en:abnormal liver enzymes, intermittent (1 patient)

•

en:acylglycinuria

•

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

•

en:decreased serum insulin-like growth factor-1 (igf1)

•

en:i-cell disease

•

en:hemoglobin decreased

•

en:hypoglycosylation of plasma glycoproteins

•

en:hyperphenylalaninemia

•

en:hyperoxalaemia

•

en:hypermethioninemia, progressive

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

en:hypercholesterolemia (in 75%)

•

en:hypercholesterolemia

•

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

•

en:homocysteinemia

•

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

•

en:high ornithine

•

en:hepatic ornithine transcarbamylase deficiency

•

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

•

en:decreased telomerase activity

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

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

•

en:elevated uric acid on urinalysis (in some patients)

•

en:elevated serum levels of adenosine

•

en:elevated plasma and urine succinylacetone

•

en:elevated d-2-hydroxyglutaric acid (urine, plasma, csf)

•

en:elevated crp

•

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

•

en:direct hyperbilirubinemia

•

en:dicarboxylic aciduria

•

en:dhea sulfotransferase below limit of detection

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:absence of hepatic udp-glucuronyl-transferase

•

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

•

en:aldolase a deficiency

•

en:ketonuria (1 patient)

•

en:normal activity of von willebrand factor-cleaving protease

•

en:nephrotic syndrome

•

en:multiple autoantibodies

•

en:monomeric igm

•

en:methioninuria

•

en:lysyl hydroxylase deficiency

•

en:low to low-normal magnesium

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:low or absent iga levels

•

en:low density lipoprotein increased

•

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

•

en:low-molecular-weight proteinuria

•

en:ketonuria

•

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

•

en:intermittent severe hypoglycemia (in some patients)

•

en:inner and outer dynein arm defects, variable

•

en:incresased urinary pyruvate

•

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

•

en:increased urinary creatine

•

en:increased urinary 2-oxoglutaric acid

•

en:increased urinary 2-ketoglutarate (variable)

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased thyroid-stimulating hormone (tsh)

•

en:increased serum thyrotropin

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased serum ferritin (in some patients)

•

en:increased serum creatine kinase (patient a)

•

en:normal csf 5-hiaa

•

en:normal phytanic acid

•

en:increased lysine in serum and csf

•

en:renin decreased

•

en:kufor-rakeb syndrome

•

en:calciuria

•

en:vitamin b12 deficiency (uncommon)

•

en:tyrosinemia

•

en:type ii, normal antithrombin iii level but decreased activity

•

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

•

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

•

en:subsarcolemmal pleomorphic mitochondria on em

•

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

•

en:some cilia show abnormal beating patterns or immotility

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

en:serum thyroxine may be decreased or normal

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:normal pyridinoline excretion in urine

•

en:reduced iga

•

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

•

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

•

en:positive antinuclear antibody test

•

en:pms show deficient oxidation of debrisoquine

•

en:persistent ebv viremia

•

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

•

en:pcd shows separate and rod-shaped x chromosomes without discernible centromeres

•

en:patient cells show increased chromosome breakage

•

en:paraproteinemia

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

en:no mucopolysacchariduria

•

en:normal to mildly increased mucopolysacchariduria

•

en:increased nasal-potential difference (1 of 3 patients)

•

en:normal eosinophil peroxidase activity

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:decreased plasma zinc levels

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:dermatan sulfate excretion in urine

•

en:dehydration

•

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

•

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:defective dna repair after ultraviolet radiation damage

•

en:decreased urinary excretion of uromodulin

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased plasma apolipoprotein b (apob, 107730)

•

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

•

en:decreased or absent histidase activity

•

en:decreased neopterin and biopterin in csf

•

en:decreased leptin

•

en:decreased hdl cholesterol

•

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

•

en:decreased dna excision repair

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased activity of phosphoglycerate kinase 1

•

en:decreased acetyl-coa carboxylase activity

•

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

•

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

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin lambda light chain (147220, 22q11.2) locus

•

en:disorganized growth plate cartilage

•

en:decreased switched memory b cells (in some patients)

•

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

•

en:galactosylation defects

•

en:increased csf glycine

•

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

•

en:hyponatremia

•

en:hypocalcemia (64% of adults)

•

en:hyperprolinemia (10-15 times normal)

•

en:hypernatremia

•

en:hyperglycinemia (1 patient)

•

en:hyperglycemias, postprandial

•

en:hypercholesterolemia (disorder)

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:high sister chromatid exchange (sce) rate

•

en:heteroplasmic partial duplication of mtdna

•

en:generalized aminoaciduria

•

en:hyperchloridura

•

en:fasting hypoglycemia (early in disease course)

•

en:elevated plasma galactose (galactosemia)

•

en:elevated androstenedione and testosterone

•

en:elevated ast and ldh, especially infantile-onset

•

en:elevated total iron-binding capacity

•

en:elevated erythrocyte aicar (zmp)

•

en:elevated liver transaminases

•

en:elevated plasma methionine (methioninemia)

•

en:elevated progesterone

•

en:elevated serum parathyroid hormone (pth)

•

en:elevated sweat chloride (some)

•

en:elevated alkaline phosphatase of bone origin

•

en:increased urinary prostaglandin e2

•

en:increased urinary dihydropyrimidines

•

en:increased urinary catecholamines

•

en:increased urinary excretion of coproporphyrin i

•

en:increased urinary carnitine

•

en:increased urinary o-hydroxyphenylacetic acid, phenylpyruvic acid, phenylacetic acid and phenylacetylglutamine

•

en:lactate pyruvate ratio normal

•

en:iron deficiency

•

en:lack of excessive parenchymal iron storage

•

en:leukotriene c4 synthetase deficiency

•

en:low absolute lymphocyte count

•

en:increased urinary 3-methylcrotonylglycine

•

en:liver enzymes abnormal

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

en:increased il6, episodic

•

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

•

en:increased uric acid level

•

en:increased serum uric acid

•

en:increased serum lactate (in some patients)

•

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

•

en:increased serum direct bilirubin

•

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

•

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

•

en:increased platelet aggregation with ristocetin

•

en:increased nasal-potential difference (some)

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:increased gamma-aminobutyric acid in plasma, urine, and cerebrospinal fluid (csf)

•

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

•

en:increased creatinine

•

en:low plasma citrulline

•

en:serum calcitonin, increased

•

en:low serum ceruloplasmin

•

en:normal to mildly increased serum creatine kinase

•

en:serum iron low (finding)

•

en:impaired response to gm-csf

•

en:serum creatinine raised

•

en:serum creatine kinase may be normal or elevated

•

en:serum albumin low result

•

en:reduced erythrocyte gs activity

•

en:propionic acidemia

•

en:poor mitogenic response to growth factors

•

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

•

en:parathyroid hormone level increased

•

en:organic aciduria, mild (in some patients)

•

en:oligospermia or azoospermia

•

en:no chromosome breakage

•

en:normal serum bile acids

•

en:low serum magnesium

•

en:normal or mildly increased serum creatine kinase

•

en:normal or decreased serum potassium

•

en:normal lysyl oxidase activity

•

en:normal g(s)-alpha levels (139320)

•

en:normal erythrocyte gs activity

•

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

•

en:myoglobinuria after exertion (in some patients)

•

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

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

en:mild elevation of transaminases

•

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

•

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

•

en:low urinary cyclic amp response to pth administration

•

en:low to normal plasma methionine

•

en:increased alpha-fetoprotein (1 patient)

•

en:abnormal response of 25-hydroxyvitamin d-1-alpha-hydroxylase activity (609506) to hypophosphatemia

•

en:immotile or weakly motile cilia

•

en:contiguous gene deletion syndrome

•

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

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

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

•

en:decreased high molecular weight plasma factor viii/ vwf multimers

•

en:decreased erythrocyte 2,3-diphosphoglycerate (2,3-dpg)

•

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

•

en:decreased conversion of beta-carotene to vitamin a (retinol)

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:decreased c3 antigen

•

en:decreased activity of triosephosphate isomerase

•

en:decreased activity of thiopurine s-methyltransferase

•

en:decreased activities of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acid dehydrogenase complex

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:coarse metachromatic granules in white blood cells

•

en:decreased phosphoglycerate mutase 1 (pgam2) activity (2 to 6% of normal values)

•

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

•

en:broad tissue deposition of amylopectin-like material

•

en:antithrombin iii deficiency

•

en:anti-ds dna antibody

•

en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria

•

en:albuminuria

•

en:affected mother has normal plasma zinc levels and is not zinc-deficient

•

en:absent ch50 activity in complete c4 deficiency

•

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

•

en:abnormal liver enzymes, episodic

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:systemic amyloidosis may occur

•

en:decreased or absent serum citrulline

•

en:decreased plasma total and free carnitine

•

en:hypomethioninemia

•

en:fasting ketosis

•

en:hypocalciuria or normocalciuria

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:hyperhomocystinemia

•

en:high plasma triglyceride levels

•

en:hepatic glycine cleavage defect

•

en:growth cartilage disorganized, with islands of cells and abnormal collagen arrangement

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

en:glycogen storage disease type vi

•

en:glomerular filtration rate decreased

•

en:gaucher disease, type 1

•

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

•

en:folate-dependent fragile site at xq28

•

en:fluorescence of red blood cells by uv microscopy

•

en:eosinophilia, mild

•

en:decreased renal calcium excretion

•

en:elevated serum iron

•

en:elevated plasma cholestanol

•

en:elevated liver function tests

•

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

•

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

•

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

•

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

•

en:deficiency or absence of p47-phox protein (type i)

•

en:deficiency of creatine phosphate in brain

•

en:defective (ca2+) mobilization in t cells

•

en:decreased serum complement factor h

•

en:decreased serum cholesterol (in some)

•

en:decreased serum acth

•

en:decreased serum 18-ohb

•

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

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine

•

en:increased osmotic fragility

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:keratan sulfate excretion in urine that decreases with age

•

en:karyomegaly may be found in other visceral organs

•

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

•

en:increased urinary isobutyryl glycine

•

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

•

en:increased urinary 3-methylglutaconic acid

•

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

•

en:increased serum serotonin in 25%

•

en:increased serum lactate during metabolic crisis

•

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

•

en:increased serum bile acids

•

en:increased serum, urinary, and csf lysine

•

en:increased levels of carcinoembryonic antigen

•

en:low or undetectable c-peptide

•

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

•

en:increased ferritin

•

en:increased csf homovanillic acid (hva)

•

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

•

en:increased 11-deoxycortisol

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:hypocholesterolemia

•

en:hyperornithinemia

•

en:hyperglutaminemia

•

en:hypercholesterolemia (reported in 2 patients)

•

en:hypercalciuria (in childhood)

•

en:high sweat sodium and chloride

•

en:high serum inosine levels

•

en:low level of c4 and c2

•

en:metachromasia of white blood cells and fibroblasts

•

en:glutaric acidemia type 1

•

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

•

en:udp-galactose-4-epimerase deficiency in all cells ('generalized' or 'severe' form)

•

en:xanthine nephrolithiasis

•

en:urine odor, maple syrup

•

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

•

en:transcobalamin ii deficiency

•

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

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

en:severely decreased antigen levels of vwf and factor viii

•

en:serum creatine kinase 20-70 times normal

•

en:serum bilirubin increased

•

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

•

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

•

en:pyruvate-induced insulin secretion

•

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

•

en:methemoglobin concentration 12 to 19%

•

en:phytanic acid accumulation

•

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

•

en:normal urinary pterins

•

en:normal to slightly elevated plasma cholesterol

•

en:normal serum lipoprotein levels

•

en:normal serum folate levels

•

en:normal serum creatine kinase

•

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

•

en:normal male karyotype (46,xy)

•

en:normal axonal flare response after intradermal histamine injection

•

en:normal apoa-ii levels in homozygotes

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:mildly decreased phosphaturic response to pth administration has been reported in some cases

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:high ebv viral load

•

en:rheumatoid factor negative

•

en:fumarase deficiency

•

en:anti-ssb positive

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:decreased copper, iron, zinc

•

en:decreased circulating cortisol level

•

en:decreased blood levels of cationic amino acids

•

en:decreased beta-galactosidase activity

•

en:decreased activity of galactocerebrosidase

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

en:continuous urinary iodine loss

•

en:chromosome deletion extending from 8q24.11 to 8q24.13

•

en:characteristic urinary coproporphyrin pattern (mostly isomer i (80%) instead of isomer iii)

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:argininosuccinic aciduria

•

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

•

en:decreased metabolism of thiopurine drugs

•

en:aminoaciduria (less common)

•

en:aminoaciduria, intermittent

•

en:acth normal

•

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

•

en:abnormal nasal potential difference

•

en:abnormal columnization of chondrocytes

•

en:abacterial leukocyturia

•

en:laboratory abnormalities

•

en:urine osmolarity decreased

•

en:urinary excretion of mucopolysaccharides

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

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

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:decreased fibroblast iduronate sulfatase

•

en:abetalipoproteinemia (lab finding)

•

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

•

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

•

en:ethylmalonic aciduria

•

en:eosinophilia

•

en:decreased or absent ciliary motility

•

en:elevated urine unsulfated chondroitin sulfate

•

en:elevated serum transaminase levels

•

en:elevated plasma levels of lp(a)

•

en:elevated liver enzymes

•

en:elevated dihydrobiopterin in csf

•

en:elevated csf/plasma glycine ratio

•

en:elevated creatine kinase (in some patients)

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:elevated ammonia

•

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

•

en:elevated serum levels of follicle stimulating hormone (fsh)

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

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

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

en:decreased serum igm

•

en:decreased serum levels of maoa products

•

en:decreased respiratory chain complex iii activity in multiple tissues

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:decreased tetrasialotransferrin levels

•

en:decreased palmitate oxidation

•

en:decreased thyroxine level

•

en:decreased urinary sulfate

•

en:defects in mitochondrial oxidative phosphorylation

•

en:defect in mitochondrial and peroxisomal fission

•

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

•

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

•

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

•

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

•

en:mitochondrial malonyl-coa decarboxylase activity in fibroblasts is very low (as low as 4%)

•

en:normal dermal hydroxylysine content

•

en:monoclonal gammopathy

•

en:myoglobinuria (reported in 1 patient)

•

en:normal arterial oxygen saturation

•

en:normal complex ii activity

•

en:normal extrarenal responses to ddavp administration

•

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

•

en:increased urinary phospholipids

•

en:low leukocyte alkaline phosphatase activity

•

en:low csf creatinine

•

en:low copper and ceruloplasmin

•

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

•

en:intermittent dicarbonic aciduria

•

en:increased urinary n-acetylated amino acids

•

en:increased urinary ketones

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:increased serum transferrin

•

en:increased serum bilirubin due to hemolysis

•

en:normal total urinary coproporphyrin

•

en:increased interleukin 10

•

en:increased igg level

•

en:normal number of t and b lymphocytes

•

en:serum phosphate normal

•

en:normal transferrin saturation

•

en:sweat test normal

•

en:5-oxoprolinase deficiency

•

en:increased chromosomal rearrangements (bone marrow and fibroblast culture)

•

en:3-methylglutaric aciduria

•

en:vitamin b12 deficiency (in some patients)

•

en:very low iga

•

en:very long chain fatty acid accumulation

•

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

•

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

•

en:thyroid peroxidase defect

•

en:thyroid hormones increased

•

en:shortened telomeres (classic feature, nola3 patient)

•

en:normal urinary orotic acid

•

en:serum iron raised

•

en:serum cortisol elevated

•

en:serum complement decreased

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:relatively low urinary pge-m levels

•

en:reduced ferrochelatase activity

•

en:pyruvic acidemia

•

en:platelet function test normal

•

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

•

en:no ketosis

•

en:no increased sensitivity to oxidative species

•

en:increased hepatic parenchymal cell stainable iron

•

en:decreased serum bun

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

en:decreased factor xi

•

en:decreased serum haptoglobin

•

en:decreased reversible oxygen-binding capacity (e.g. hb l (bombay) 141800.9999)

•

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

•

en:decreased plasminogen activity

•

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

•

en:decreased mitochondrial respiratory complexes i, iii, and iv in brain, heart, and skeletal muscle

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:decreased levels of plasma vwf antigen

•

en:decreased iga, igg, igm

•

en:decreased glycerol kinase activity

•

en:decreased cholesterol (less common)

•

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

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

en:chylomicronemia, refractory fasting

•

en:blood glucose normal

•

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

•

en:absence of chylomicrons in lymph and plasma

•

en:abnormal n-glycosylation of transferrin

•

en:abnormal liver function tests during pregnancy, resolves postpartum

•

en:abnormal liver function tests (less common)

•

en:4-hydroxyphenyllactic aciduria

•

en:2,8-dihydroxyadenine (dha) urinary stones

•

en:abnormal liver enzymes (1 patient)

•

en:decreased tetrasialo-transferrin

•

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

•

en:impairment of urinary concentration

•

en:hyperbilirubinemia

•

en:impaired oxidation of pyruvate

•

en:immunoglobulin a decreased

•

en:hypoxemia

•

en:hypoproteinemia due to hypercatabolism

•

en:hypophosphatemia (less common)

•

en:hypogammaglobulinemia

•

en:hypocalcemia, transient

•

en:hypertriglyceridemia, transient

•

en:hyperthreoninuria

•

en:hyperprolinemia (5-10 times normal)

•

en:hyperglycemia

•

en:hyperammonemia after protein intake

•

en:elevated 3-hydroxypropionic acid

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:hereditary xanthinuria

•

en:hawkinsinuria

•

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

•

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

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:elevated sepiapterin in csf

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:elevated alpha-ketoglutarate (in most patients)

•

en:abnormal eeg in 25% hospitalized patients

•

en:decreased decr enzyme activity

•

en:abnormal liver enzymes (rare)

•

en:increased urinary oxylate

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:microsomal hmg-coa reductase decreased

•

en:microdeletion 22q11.2

•

en:medium chain dicarboxylic aciduria

•

en:low plasma tryptophan (inflammatory type b)

•

en:low or normal serum erythropoietin

•

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

•

en:ketosis

•

en:iron binding capacity total increased

•

en:intracellular granular material on ultrastructural analysis

•

en:increased urinary hga

•

en:myoglobinuria after exertion

•

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

•

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

•

en:increased transferrin saturation (>60%)

•

en:increased total bilirubin may occur

•

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

•

en:increased serum s-adenosylhomocysteine

•

en:increased serum alanine

•

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

•

en:increased prv-1 (162860) mrna

•

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

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

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

•

en:myoglobinuria with extreme exertion

•

en:hypokalemia during periodic paralysis (most patients)

•

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

•

en:vitamin k deficiency

•

en:variable hyperlipidemia

•

en:uroporphyrinogen iii cosynthase (uro cosynthase) deficiency in blood and fibroblasts

•

en:undetectable serum l-transferrin (homozygous patient)

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:telomere shortening

•

en:serum ferritin hyperglycosylation

•

en:serum cholesterol low or normal

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:reduced serum uric acid

•

en:pt normal

•

en:abnormal liver function tests (in some patients)

•

en:normal collagen type i studies

•

en:premature separation of centromeric heterochromatin

•

en:pms have increased metabolic ratio of unchanged drug-to-metabolite in urine

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:partial deficiency of factor xiii (less common)

•

en:parathyroid hormone (pth) absent to low

•

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

•

en:occasional hypomagnesemia

•

en:no evidence of perinatal infection

•

en:normal serum parathyroid hormone (pth)

•

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

•

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

•

en:impaired o-glycosylation

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:hypoglycemia

•

en:chromosome inversion - inv2(p12q14) in 2 patients

•

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

•

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

•

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

•

en:decreased complement factor d

•

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

•

en:decreased aminoacylase-1 activity

•

en:decreased adiponectin

•

en:decreased activity of tyrosine hydroxylase

•

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

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:carriers have balanced constitutional translocation - 46,xx(or xy), +(11:22)(q23:q11)

•

en:decreased grhpr activity

•

en:carnitine palmitoyltransferase ii deficiency (25% of controls)

•

en:borderline elevated low-density lipoprotein

•

en:bicarbonaturia

•

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

•

en:alpha ketoadipic aciduria

•

en:alkaline phosphatase normal

•

en:adrenocorticotropic hormone, increased

•

en:absent 7-dehydrocholesterol

•

en:absence of peroxidase staining in neutrophils and monocytes

•

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

•

en:hypoalphalipoproteinemia

•

en:decreased glutamine in bodily fluids

•

en:aminoaciduria (1 patient)

•

en:decreased plasma free carnitine

•

en:elevated plasma phytanic acid

•

en:hypertriglyceridemia

•

en:decreased plasma gonadotrophin

•

en:hyperphosphatemia

•

en:hyperinsulinemia

•

en:hyperammonemia, episodic

•

en:high plasma asparagine

•

en:hair bulb tyrosinase present

•

en:gm2-ganglioside accumulation

•

en:excessive iodide trapping

•

en:elevated serum uric acid concentrations

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:homocystinuria

•

en:elevated plasma citrulline (citrullinemia)

•

en:decreased tissue total and free carnitine

•

en:elevated erythrocyte sedimentation rate (mean 90mm/h)

•

en:decreased serum alpha-2 macroglobulin levels

•

en:decreased serum factor i (atypical hus)

•

en:decreased telomere length in lymphocytes

•

en:decreased serum haptoglobin (in some patients)

•

en:deficient fibroblast aicar-tf activity

•

en:deletion of chromosome 18p11.2

•

en:diffuse deposition of calcium oxalate in various tissues

•

en:elevated biopterin in csf

•

en:decreased serum and muscle coenzyme q

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:inappropriately low urine osmolality

•

en:increased neopterin in urine and csf

•

en:increased creatine kinase (ck)

•

en:increased csf lactate

•

en:increased csf protein

•

en:increased interferon-alpha signal

•

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

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:increased prevalence among the native american lumbee indians

•

en:increased sensitivity to adrenergic and cholinergic agents

•

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

•

en:increased serum ammonia (group b)

•

en:increased serum gm-csf

•

en:increased serum ige

•

en:increased serum pyruvate in acute stage

•

en:hypoxia

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:impaired mitochondrial translation

•

en:hemoglobin f increased

•

en:hypomagnesemia

•

en:hematuria, gross and microscopic

•

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

•

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

•

en:fibrinogen decreased

•

en:fibroblasts are small and rounded with prominent nucleoli

•

en:galactosuria

•

en:glucosidase i deficiency in liver and fibroblasts

•

en:glycoamino aciduria

•

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

•

en:hypocalciuria

•

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

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:hyperarginemia

•

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

•

en:hyperchloremia (mean 114 mm)

•

en:hyperglycolic aciduria

•

en:hyperlysinemia

•

en:hypocalcemia

•

en:increased urinary excretion of camp

•

en:pancreatic trypsinogen deficiency

•

en:increased urinary neopterin

•

en:plasma aldosterone increased

•

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

•

en:no hyperuricemia

•

en:no lactic acidosis

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:partial deletion of long arm of chromosome 11 (11q23-qter)

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

en:pipecolic acid accumulation.

•

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

•

en:normal baseline cortisol

•

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

•

en:serum aldosterone elevated

•

en:serum cholesterol raised

•

en:thyroid hormone organification defect

•

en:transferrin saturation increased

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

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

•

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

•

en:normal concentration of parathyroid hormone

•

en:normal-elevated plasma testosterone (male range)

•

en:increased urinary organic acids (in some patients)

•

en:low levels of cd11/cd18 (lfa-1 or leukocyte function antigen-1) glycoprotein

•

en:indirect hyperbilirubinemia

•

en:intermittent ethylmalonic aciduria

•

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

•

en:iron overload (in some patients)

•

en:isovaleric acidemia

•

en:liver function tests normal

•

en:low ldl cholesterol

•

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

•

en:neonatal hyperbilirubinemia

•

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

•

en:marked hypobetalipoproteinemia

•

en:methylmalonic aciduria

•

en:mildly elevated urinary mevalonic acid

•

en:mildly increased serum lactate

•

en:mild to moderate hyperammonemia

•

en:molybdenum cofactor deficiency

•

en:n-glycosylation defect

•

en:elevated urinary 2-ethylhydracrylate

◀

Génériques

[F] [H]

›

en:cytoplasmic

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6845351 • caches: c1=8 c2=1003 c3=1

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