Le Diko - en:decreased prpp synthetase activity in erythrocytes and fibroblasts

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Le Diko - en:decreased prpp synthetase activity in erythrocytes and fibroblasts

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en:decreased prpp synthetase activity in erythrocytes and fibroblasts

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:transient neonatal hypocalcemia (2p21del)

•

en:increased chromosomal breakage

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:aberrant gamma-interferon-mediated inflammation

•

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

•

en:dhea sulfotransferase below limit of detection

•

en:elevated plasma branched chain amino acids (leucine, isoleucine, valine)

•

en:elevated propionate

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:elevated white blood cell cystine

•

en:generalized amyloid deposition

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

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

•

•

•

en:low to normal serum calcium

•

en:reduced platelet glycoprotein ib complex

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:little to absent aspartylglucosaminuria activity

•

en:hyperglycinemia (1 patient)

•

en:galactosylation defects

•

en:electrolyturia (1 patient)

•

en:creatine kinase levels may normalize with disease progression

•

en:thymic hormone decreased

•

en:normal parathyroid hormone (female)

•

en:abnormal serum liver enzyme levels

•

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

•

en:decreased or absent gch1 activity

•

en:fasting ketosis

•

en:hepatic ornithine transcarbamylase deficiency

•

en:hyperlipidemia

•

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

•

en:mild hypertriglyceridemia

•

en:normal to mildly increased serum creatine kinase

•

en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine

•

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

•

en:variable hyperlipidemia

•

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

•

en:low or undetectable c-peptide

•

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

•

en:hematuria (less common)

•

en:elevated urine unsulfated chondroitin sulfate

•

en:elevated urinary delta-aminolevulinic acid

•

en:cytogenetic breakpoints range from 10q23.3-q26.2

•

en:reduced ige levels

•

en:1,25-dihydroxyvitamin d was elevated in childhood but deficient in adulthood

•

en:abnormal fecal fat

•

en:abnormal urinary oligosaccharides

•

en:decreased copper, iron, zinc

•

en:increased soluble il2 receptor

•

en:intracellular accumulation of unesterified cholesterol

•

en:3-methylglutaric aciduria

•

en:decreased short/branched-chain acyl-coa dehydrogenase protein levels and enzyme activity

•

en:routine liver function tests normal

•

en:abnormal serum protein electrophoresis (elevated alpha-2 band)

•

en:decreased serum trypsinogen

•

en:increased intracellular fmrp mrna

•

en:low level of c4 and c2

•

en:normal transferrin isoelectric profile

•

en:serum prolactin increased

•

en:immediate (type i) skin test reactivity

•

en:increased serum alanine (1 patient)

•

en:increased iga level

•

en:normal or increased serum phytanic acid

•

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

•

en:decreased plasma arginine

•

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

•

en:decreased activity of phosphoglycerate kinase 1

•

en:low or absent prolactin (pl)

•

en:increased serum and csf lactate

•

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

•

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

•

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

•

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

•

en:increased serum iduronate sulfatase

•

en:prolonged bleeding time

•

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

•

en:decreased cholesterol (less common)

•

en:decreased c3 antigen

•

en:no histochemical evidence of mitochondrial myopathy.

•

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

•

en:rhabdomyolysis in response to alcohol

•

en:decreased activity of complement factor d

•

en:glomerular filtration rate decreased

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

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

•

en:increased oxygen affinity (e.g. hb nunobiki 141800.0109)

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:increased serum creatine kinase, mild

•

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

•

en:normal serum liver enzymes

•

en:osteocalcin increased

•

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

•

en:serum ammonia increased

•

en:fibrinogen decreased

•

en:severely decreased antigen levels of vwf and factor viii

•

en:serum iron normal

•

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

•

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

•

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

•

en:elevated serum uric acid concentrations

•

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

•

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

•

en:borderline elevated low-density lipoprotein

•

en:atrial abnormalities on electrocardiogram

•

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

•

en:normal to elevated total plasma carnitine

•

•

en:low total serum protein

•

en:increased fractional excretion of uric acid

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:bile contains cholesterol crystals

•

en:dermatan and heparan sulfate excretion in urine

•

en:decreased serum vitamin a

•

en:decreased or absent histidase activity

•

en:cerebrospinal fluid oligoclonal bands

•

en:widespread interstitial fibrosis (visceral organs)

•

en:absence of outer dynein arms

•

en:platelet function test normal

•

en:mildly elevated acth

•

en:abetalipoproteinemia (lab finding)

•

en:increased urinary organic acids (in some patients)

•

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

•

en:prothrombin time increased

•

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

•

en:parathyroid hormone normal

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:some fragmented or disrupted golgi

•

•

en:elevated dihydrobiopterin in csf

•

en:dyslipidemia

•

en:deficiency or absence of p91-phox protein

•

en:decreased tetrasialotransferrin levels

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:fibroblasts show increased sensitivity to apoptosis

•

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

•

en:increased urinary 2-methylacetoacetic acid

•

en:increased serum transferrin

•

en:increased serum levels of free plasma thyroid hormones

•

en:increased di- and asialo-transferrin

•

en:chromosomal mosaicism in cultured cells

•

en:hypoglycosylation of plasma glycoproteins

•

en:elevated fasting glucose

•

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

•

en:alpha fetoprotein increased

•

en:abnormal liver function tests (less common)

•

•

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

•

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

•

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

•

en:igg, decreased

•

en:xanthine nephrolithiasis

•

en:thrombocytopenia, mild-moderate (60-100 x 10(9)/l)

•

en:neutrophilia, both basal and during infections

•

en:lactic acidosis

•

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

•

en:normal igg levels

•

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

•

en:elevated plasma alloisoleucine

•

en:elevated androstenedione and testosterone

•

en:decreased tissue total and free carnitine

•

en:decreased plasma esterified cholesterol

•

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

•

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

•

en:decreased beta-oxidation of pristanic acid

•

en:deficiency of creatine phosphate in brain

•

en:fasting hyperinsulinemia

•

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

•

en:hypercholesterolemia (in 75%)

•

en:hypoglycorrhachia (low glucose in csf)

•

en:low urinary orotic acid

•

en:no chromosome breakage

•

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

•

en:homocysteinemia

•

en:decreased axonal flare response after intradermal histamine injection

•

en:normal serum and mucosal iga

•

en:decreased b cells

•

en:translocation of chromosomes 9 and 13

•

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

•

en:normal to increased plasma glycine

•

en:very low density lipoprotein increased

•

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

•

en:increased serum triglycerides (in some patients)

•

en:increased gamma-interferon

•

en:elevated plasma levels of lp(a)

•

en:normal leukocyte and platelet counts

•

en:lactic acidemia (2p21del)

•

en:normal complex ii activity

•

en:nonketotic hypoglycemia

•

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

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

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

•

en:low to normal plasma methionine

•

en:low serum ceruloplasmin

•

en:low plasma citrulline

•

en:low leukocyte alkaline phosphatase activity

•

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

•

en:increased total and conjugated bilirubin

•

en:intermittent dicarbonic aciduria

•

en:increased urinary n-acetylated amino acids

•

en:increased urinary cortisol/cortisone ratio

•

en:increased urinary 2-methylbutyryl glycine

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:increased tissue long-chain acylcarnitines

•

en:increased serum thrombopoietin may occur

•

en:increased serum lactate (patient a)

•

en:increased serum lactate

•

en:increased serum and urinary lactate

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

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

•

en:normal plasma and tissue carnitine

•

en:subtelomeric deletion of chromosome 16p

•

en:normal serum plasmalogen

•

en:serum folate normal

•

en:4-hydroxyphenylactic aciduria

•

en:laboratory abnormalities

•

en:variable hypoglycemia

•

en:translocation or deletions involving 7p13 (severe case reports)

•

en:transferase deficiency galactosemia

•

en:transaminitis

•

en:thyroid peroxidase defect

•

en:tay-sachs disease

•

en:increased pristanic acid

•

en:submucosal macrophages filled with sphingolipids

•

en:skewed x-inactivation in females

•

en:secondary decrease of plasma free carnitine

•

en:normal urinary 17-ketosteroids

•

en:resistance to 1,25-dihydroxyvitamin d3

•

en:reduced erythrocyte gs activity

•

en:reduced bending capacity of cilia

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:prolonged prothrombin and partial thromboplastin times

•

en:positive kveim-siltzbach skin test

•

en:polyploid sperm heads

•

en:pipecolic acidemia

•

en:phytanic acid increased

•

en:p5c levels increased in urine

•

en:orotic aciduria

•

en:organic aciduria, mild (in some patients)

•

en:increased serum acyl carnitines

•

en:glycogen storage disease type vi

•

en:increased plasma proglucagon

•

en:decreased activity of mitochondrial respiratory complexes

•

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

•

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

•

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

•

en:decreased sulfite oxidase activity

•

en:decreased serum thyroxine (t4)

•

en:decreased serum ferritin

•

en:decreased serum cholesterol (in some)

•

en:decreased serum acth

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

en:decreased neopterin and biopterin in csf

•

en:decreased eno3 activity

•

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

•

en:elevated crp

•

en:d-2-hydroxyglutaric aciduria

•

en:coombs positive hemolytic anemia

•

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

•

en:antithrombin iii deficiency

•

en:anti-iga antibodies commonly present

•

en:amylo-1,6-glucosidase deficiency

•

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

•

en:aldosterone concentration below normal

•

en:agammaglobulinemia

•

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

•

en:abnormal dystrophin on muscle biopsy

•

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

•

en:elevated gamma-glutamyltransferase (ggt)

•

en:increased il6, episodic

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:increased free erythrocyte protoporphyrin

•

en:increased fibroblast free sialic acid

•

en:increased csf interferon alpha

•

en:increased csf and plasma ghb

•

en:inappropriately normal or increased plasma hepcidin

•

en:impaired long-chain fatty acid oxidation during prolonged, low-intensity exercise

•

en:iga antiendomysial antibodies (ema)

•

en:hypomethioninemia

•

en:hypocitraturia

•

en:hypocalciuria or normocalciuria

•

en:hyperbilirubinemia in those with liver failure

•

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

•

en:elevated inflammatory markers

•

en:high serum osmolality

•

en:high plasma citrulline (100-300 micromolar)

•

en:abnormal eeg in 25% hospitalized patients

•

en:glucose breath hydrogen test shows malabsorption of glucose and galactose

•

en:galactosuria without galactosemia

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:elevated serum transferrin saturation

•

en:elevated serum phosphorus

•

en:elevated sepiapterin in csf

•

en:elevated plasma follicle stimulating hormone (fsh)

•

en:5-alpha-reductase-2 enzyme deficiency

•

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

•

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

•

en:increased urinary thymine

•

en:mildly increased serum lactate

•

en:mildly elevated hdl in heterozygotes

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:markedly reduced igg levels

•

en:low plasma free and total carnitine

•

en:low or absent luteinizing hormone (lh)

•

en:low acth level

•

en:liver function tests normal

•

en:lactate high

•

en:iron binding capacity total increased

•

en:intermittent severe hypoglycemia (in some patients)

•

en:increased urinary taurine

•

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

•

en:increased urinary oxylate

•

en:increased urinary excretion of camp

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased thyroid-stimulating hormone (tsh)

•

en:increased serum thymidine

•

en:increased serum methionine (reported in 2 cases)

•

en:increased serum arylsulfatase a (10-20x)

•

en:increased serum and urinary 2-oxoglutarate

•

en:increased serum alkaline phosphatase (in some patients)

•

en:increased serum acylcarnitine during febrile crisis

•

en:increased prevalence among the native american lumbee indians

•

en:mild elevation of cholesterol

•

en:myoglobinuria after exertion

•

en:increased plasma branched-chain fatty acids

•

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

•

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

•

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

•

•

en:thrombocytosis (in some patients)

•

en:spongy degeneration of brain on histology

•

en:serum gastrin increased

•

en:serum ferritin hyperglycosylation

•

en:serum copper decreased

•

en:serum cholesterol raised

•

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

•

en:positive antinuclear antibody test

•

en:plasma ammonia not elevated

•

en:myoglobinuria with extreme exertion

•

en:orotic acid crystalluria

•

en:no ketonuria

•

en:no hyperuricemia

•

en:normal tyrosinase

•

en:normal to slightly elevated plasma cholesterol

•

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

•

en:normal serum folate levels

•

en:normal phytanic acid

•

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

•

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

•

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

•

en:normal exocrine pancreatic function

•

en:increased plasma phospholipids

•

en:normal male karyotype (46,xy)

•

en:increased il-8

•

en:decreased iga, igg, igm

•

en:elevated 1,25(oh)2 d3

•

en:direct coombs test negative

•

en:decreased t cells

•

en:decreased serum rt3

•

en:decreased serum igm

•

en:decreased serum factor b (atypical hus)

•

en:decreased serum c3 (atypical hus)

•

en:decreased plasma glycine

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:decreased or absent d-bifunctional protein activity and protein

•

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

•

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

•

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

•

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

•

en:decreased cortisol-binding globulin

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:decreased activity of the e2 subunit (lipoyl transacetylase, 608770) of the pdh

•

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

•

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

•

en:chronic hypoxemia

•

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

•

en:increased free cyanocobalamin in fibroblasts

•

•

•

en:elevated ammonia

•

en:decreased natural killer cells

•

en:elevated fecal levels of protoporphyrin and coproporphyrin at all times

•

en:granular osmiophilic deposits (grod) in cells

•

en:increased erythrocyte sedimentation rate, episodic

•

en:increased csf homovanillic acid (hva)

•

en:elevated leukotriene e(4)

•

en:increased biliverdin in bodily fluids

•

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

•

en:impaired platelet aggregation

•

en:impaired o-glycosylation

•

en:impaired creatine uptake in fibroblasts

•

en:immunoglobulin antibodies present

•

en:hypertriglyceridemia (in some patients)

•

en:hypercalcemia

•

en:hereditary angioedema

•

en:hyperuricosuria

•

en:increased csf protein

•

en:elevated pyruvate (in most patients)

•

en:elevated serum parathyroid hormone (pth)

•

en:glutathione deficiency

•

en:elevated serum transaminase levels

•

en:elevated prothrombin time

•

en:elevated urinary epinephrine

•

en:elevated urinary hyaluronic acid levels

•

en:extremely low creatine excretion

•

en:fasting chylomicronemia

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

en:glutaric acidemia type 1

•

en:increased serum lactate dehydrogenase (ldh)

•

en:increased serum osteocalcin

•

en:increased toxic thioguanine nucleotides (tgns) on standard doses of thiopurine drugs

•

en:increased urinary acetoacetic acid

•

en:increased urinary orotic acid (in some patients)

•

en:liver phosphorylase kinase (phk) deficiency

•

en:increased urinary potassium

•

en:indirect bilirubin increased

•

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

•

en:lack of excessive parenchymal iron storage

•

en:low copper and ceruloplasmin

•

en:long-chain dicarboxylic aciduria

•

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

•

en:isovalericaciduria

•

•

en:increased serum acylcarnitines

•

en:impaired n-glycosylation

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:hyperthreoninuria

•

en:markedly reduced iga levels

•

en:hypokalemia occurs during paralytic attacks

•

en:hypoproteinemia due to hypercatabolism

•

en:igg, elevated

•

en:increased 18-oxocortisol

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:increased bone-specific alkaline phosphatase

•

en:increased c10:2-carnitine

•

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

•

en:increased erythropoietin

•

en:increased interleukin 10

•

en:increased plasma creatine

•

en:low or undetectable insulin

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:methylmalonic acidemia

•

en:smooth muscle antibodies positive

•

en:saccharopine dehydrogenase deficiency

•

en:serum bicarbonate increased

•

en:serum corticosterone increased

•

en:serum cortisol elevated

•

en:serum osmolality decreased

•

en:serum testosterone decreased

•

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

•

en:reticulocyte count increased

•

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

•

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

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:5-oxoprolinase deficiency

•

en:abnormal karyotype in 3 patients involving distal 6p

•

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

•

en:rheumatoid factor positive (finding)

•

en:pyruvic acidemia

•

en:methylmalonic aciduria, mild

•

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

•

en:microscopic hematuria

•

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

•

en:mildly decreased serum creatinine

•

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

•

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

•

en:mitochondria dna deletion

•

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

•

en:presence of serum anti-lu3 antibodies

•

en:myoglobinuria (reported in 1 patient)

•

en:normal lysosomal hydrolases

•

en:normal serum erythropoietin (epo, 133170)

•

en:no hyperphenylalaninemia

•

en:partial deficiency of factor xiii(c)

•

en:positive urine dnph screening test

•

en:hypercholesterolemia (10%)

•

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

•

en:hypercalciuria

•

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

•

en:decreased mitochondrial complex v assembly

•

en:decreased metabolism of thiopurine drugs

•

en:decreased long-chain fatty acid oxidation

•

en:decreased levels of component x protein of the pdh complex

•

en:decreased leptin

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

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

•

en:decreased complement factor d

•

en:decreased clot retraction

•

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

•

en:decreased blood levels of cationic amino acids

•

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

•

en:decreased antithrombin iii (rare)

•

en:decreased acetyl-coa carboxylase activity

•

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

•

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

•

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

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:abnormal schilling test (not normalized by addition of intrinsic factor)

•

en:absent tyrosinase activity

•

•

en:aminoaciduria, mild (in some patients)

•

en:balanced/unbalanced chromosomal translocation t(2,13)(q36,q11)

•

en:creatine decreased

•

en:ballooned neurons

•

en:blood glucose normal

•

en:calcium normal

•

en:cd4+/cd8+ ratio is reversed

•

en:cholesterol low

•

en:chondroitin 4-, 6-sulfate excretion in urine

•

en:decreased monoamine oxidase a activity

•

en:decreased or absent pts activity

•

en:high urinary copper

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

en:elevated serum iron

•

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

•

en:elevated serum transaminases during infections

•

en:enzyme replacement therapy has not been effective

•

en:eosinophilia, mild

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

en:elevated levels of vitamin b12

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:gaucher disease, type 1

•

en:glucosuria, mild, intermittent

•

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

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:high ornithine

•

en:elevated plasma propionylcarnitine

•

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

•

en:decreased or absent steroid sulfatase activity

•

en:decreased plasma lpl levels (in some patients)

•

en:decreased or increased serum testosterone

•

en:decreased or normal plasma insulin

•

en:decreased or normal serum factor b

•

en:decreased phytanic acid oxidase activity

•

en:decreased plasma apolipoprotein b (apob, 107730)

•

en:decreased plasma free carnitine

•

en:decreased plasma zinc levels

•

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

•

en:decreased serum luteinizing hormone (lh)

•

en:defective glcnac-pi synthesis

•

en:defect in double-stranded dna repair

•

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

•

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

•

en:elevated 17-hydroxyprogesterone

•

en:abnormal oral glucose tolerance

•

en:excessive iodide trapping

•

en:abnormal transaminases (1 patient)

•

en:increased urinary neopterin

•

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

•

en:markedly increased serum creatine kinase

•

en:low serum uric acid

•

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

•

en:low apolipoprotein

•

en:leukocytosis

•

en:large spermatozoa

•

•

en:intermittent 3-methylglutaconic aciduria

•

en:inner and outer dynein arm defects, variable

•

en:incresased urinary pyruvate

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:increased urinary sulfatide excretion

•

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

•

en:increased urinary malic acid

•

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

•

en:increased serum citrulline (group b)

•

en:increased disialotransferrin and asialotransferrin levels

•

en:increased lactate in spinal fluid

•

en:increased plasma levels of very long-chain fatty acids (vlcfa)

•

en:increased plasma vldl, ldl

•

en:increased serum, urinary, and csf lysine

•

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

•

en:increased serum ferritin (in some patients)

•

en:increased urinary isobutyryl glycine

•

en:increased serum gm-csf

•

en:increased serum lactate during metabolic crisis

•

en:increased serum manganese

•

en:increased sodium-potassium pump activity

•

en:increased urinary 7-biopterin (primapterin)

•

en:increased urinary excretion of l-xylulose

•

en:mildly elevated urinary mevalonic acid

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:increased circulating renin level

•

en:reticulocytosis

•

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

•

en:vitamin b12 deficiency (uncommon)

•

en:very low igg

•

en:variable respiratory chain enzyme deficiency

•

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

•

en:unprocessed 3-oxoacyl coa thiolase

•

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

•

en:tyrosine iodination defect

•

en:thyroid dyshormonogenesis 3

•

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

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

en:saposin a deficiency (finding)

•

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

•

en:round, yellow-brown dha urine crystals

•

en:reduced unsaturated serum cobalamin binding capacity

•

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

•

en:no evidence of common prenatal infections

•

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

•

en:normal or increased serum phosphate

•

en:normal or mildly reduced sphingomyelinase activity

•

en:normal urinary cyclic amp response to pth administration

•

en:no c8 antigen detected

•

en:no chromosomal breakage

•

en:paraproteinemia

•

en:reduced beating amplitudes in cilia

•

en:parathyroid hormone (pth) absent to low

•

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

•

en:phosphaturia

•

en:positive urinary bratton-marshall test

•

en:primary immunoglobulin-related amyloidosis (al)

•

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

•

en:increased creatine kinase (ck)

•

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

•

en:increased bone serum acid phosphatase

•

en:decreased activity of dihydrofolate reductase

•

en:decreased neopterin and biopterin in urine

•

en:decreased mitochondrial nadp(h)

•

en:decreased methionine synthase activity

•

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

•

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

•

en:decreased csf hypocretin

•

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

•

en:decreased circulating aldosterone level

•

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

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:decreased apoa-i and apoa-ii

•

en:decreased adenosylcobalamin

•

en:decreased activity of pyruvate dehydrogenase complex

•

en:decreased activity of nadph oxidase

•

en:decreased acid beta galactosidase protein and activity

•

en:decreased plasma triglycerides

•

en:aminoaciduria (1 patient)

•

en:absence of cpt ii protein

•

en:increased alpha-fetoprotein in the mother during early pregnancy while carrying an affected fetus

•

en:absence of hepatic udp-glucuronyl-transferase

•

en:absent/reduced free proteins and absent total protein s

•

en:absent anti-insulin receptor antibodies

•

en:absent igg2 subclass

•

en:aminoaciduria (less common)

•

en:cutaneous anergy

•

en:aspartylglycosaminuria

•

en:cd4+/cd8+ ratio often reversed

•

en:cells show defective transcription-coupled nucleotide excision repair (tc-ner) after uv irradiation

•

en:cholesterol normal

•

en:continuous urinary iodine loss

•

en:csf pleocytosis, particularly of lymphocytes

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

en:aminoaciduria, intermittent

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:inappropriately low urine osmolality

•

en:decreased von willebrand factor

•

en:hyposialylation of o-linked serum glycans

•

en:hypokalemia during periodic paralysis (most patients)

•

en:hypofibrinogenemia

•

en:hypoalbuminemia

•

en:hyperkalemia

•

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

•

en:hydrocortisone decreased

•

en:homocitrullinuria

•

en:high sister chromatid exchange (sce) rate

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:glycogen storage disease type vii

•

en:galactocerebroside beta-galactosidase deficiency in serum, leukocytes, and fibroblasts

•

en:hypogammaglobulinemia, profound

•

en:fibroblasts are small and rounded with prominent nucleoli

•

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

•

en:defects in mitochondrial oxidative phosphorylation

•

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

•

en:female carriers show markedly skewed x inactivation

•

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

•

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

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:impaired mitochondrial translation

•

en:elevated plasma galactose (galactosemia)

•

en:elevated csf/plasma glycine ratio

•

en:elevated ast and ldh, especially infantile-onset

•

en:elevated fibroblast free sialic acid

•

en:elevated plasma estrogen

•

en:elevated serum iron and iron binding capacity

•

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

•

en:increased plasma levels of bile acid intermediates

•

en:ketonuria, acute

•

en:ketoses, metabolic

•

en:lipopigment in extraneuronal cells

•

en:low serum levels of branched-chain amino acids

•

en:metabolic acidosis

•

en:median mean platelet volume (mpv) 12.5fl

•

en:methemoglobinemia

•

en:methionine adenosyltransferase deficiency

•

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

•

en:myoglobinuria after exertion (in some patients)

•

en:neutropenia (in 1 patient)

•

en:isovalerylglycinuria

•

en:increased urinary creatine-to-creatinine ratio

•

•

en:increased urinary excretion of coproporphyrin i

•

en:increased urinary carnitine

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

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

•

en:increased uric acid level

•

en:increased serum creatine kinase in patients with muscle involvement

•

en:increased serum creatine kinase during episodes

•

en:increased serum creatine kinase (less common)

•

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

•

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

•

en:normal iga levels

•

en:increased plasma long-chain acylcarnitines

•

en:increased serum direct bilirubin

•

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

•

en:normal sweat chloride (3 of 3 patients)

•

en:sce normal in heterozygotes

•

en:2-aminoadipic aciduria

•

en:increased plasma free cholesterol

•

en:very long chain fatty acid accumulation

•

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

•

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

•

en:unresponsive to acth stimulation

•

en:tyrosine loss

•

en:transient neonatal hypoglycemia (2p21del)

•

en:thyroid dyshormonogenesis 4

•

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

•

en:sialylation defects

•

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

•

en:serum transaminase increased

•

en:respiratory cilia and sperm flagella show reduced coordination of beating activity

•

en:normal total urinary coproporphyrin

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

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

•

en:prothrombin time low

•

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

•

en:plasma catecholamines decreased

•

en:plasmalogen deficiency

•

en:phosphate normal

•

en:patient cells show a defect in transcription-coupled and global genome nucleotide excision repair

•

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

•

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

•

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

•

en:oligospermia or azoospermia

•

en:no metabolic abnormalities

•

en:increased plasma homogentisic acid (hga)

•

en:decreased telomerase activity

•

en:increased phytanic acid in body tissues and fluids

•

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

•

en:decreased serum iga

•

en:decreased serum factor h (atypical hus)

•

en:decreased serum 18-ohb

•

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

•

en:decreased plasminogen antigen

•

en:decreased phgdh activity (fibroblasts)

•

en:decreased or absent ciliary motility

•

en:decreased levels of plasma factor viii in patients with type 2n

•

en:decreased glutamine in bodily fluids

•

en:decreased circulating cortisol level

•

en:decreased aminoacylase-1 activity

•

en:decreased activity of mitochondrial respiratory complexes i, iii, and iv

•

en:decreased activity of aromatic l-amino acid decarboxylase (aadc)

•

en:coarse metachromatic granules in white blood cells

•

en:deficiency of fructokinase

•

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

•

en:bilirubin conjugated increased

•

en:at least 2 complementation groups

•

en:associated with serum anti-phospholipid antibodies in about 50% of patients

•

en:aminoaciduria

•

en:alkaline phosphatase decreased

•

en:accumulation of shortened dolichol-linked oligosaccharides in patient fibroblasts

•

en:accumulation of guanidinoacetate in brain

•

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

•

en:abnormal liver function tests during pregnancy, resolves postpartum

•

en:abnormal liver function test

•

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

•

en:abnormal lipid profile

•

en:decreased urinary calcium and phosphate excretion

•

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

•

en:increased nasal-potential difference (some)

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:increased ck-mb

•

en:increased biopterin in urine and csf

•

en:inappropriately increased urine osmolality

•

en:impaired oxidation of pyruvate

•

en:hypertriglyceridemia (rare)

•

en:hyperphenylalaninemia

•

en:hyperoxalaemia

•

en:hyperkalemia during attacks

•

en:hypercalciuria (in some patients)

•

en:hyperbilirubinemia

•

en:holocarboxylase synthetase deficiency

•

en:glycogen accumulation in both liver and muscle

•

•

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

•

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

•

en:elevated urinary mevalonic acid

•

en:elevated testosterone

•

en:elevated sweat chloride

•

en:elevated plasma luteinizing hormone (lh)

•

en:elevated plasma insulin

•

en:elevated plasma cholestanol

•

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

•

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

•

en:elevated free carnitine

•

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

•

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

•

en:elevated blood spot hydroxybutyryl carnitine

•

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

•

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

•

en:elevated fasting triglycerides

•

en:abnormal nasal potential difference

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:low plasma arginine

•

en:low csf creatine

•

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

•

en:long-chain ketonuria

•

en:lactic acidemia

•

•

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

•

en:intracellular granular material on ultrastructural analysis

•

en:increased urinary s-sulfocysteine

•

en:increased urinary hga

•

en:increased urinary creatine

•

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

•

en:increased serum lactate (mild)

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:increased serum creatine kinase in acute stage

•

en:increased serum butyryl carnitine

•

en:increased serum and csf glycine

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:increased rai (radioactive iodine) uptake

•

en:increased peripheral blood monocytes

•

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

•

en:increased il1b increased soluble il2r

•

en:increased ige level

•

en:increased histidine in blood, urine, and csf

•

en:increased frequency of premature centromere disjunction (pcd) in cultured fibroblasts, esp. chromosome 3

•

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

•

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

•

en:abnormal secretin test

•

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

•

en:increased cholesterol

•

en:reduced erythrocyte glucose/hexose transport

•

en:ataxia, fatal x-linked, with deafness and loss of vision

•

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

•

en:variably increased serum creatine kinase

•

en:vacuolated lymphocytes

•

en:upregulation of alpha-interferon-stimulated genes

•

en:undetectable serum l-transferrin (homozygous patient)

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:telomere shortening

•

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

•

en:slightly increased serum alkaline phosphatase may occur

•

en:shortened telomeres (1 patient)

•

en:serum transferrin glycosylation is normal

•

en:serum folate low

•

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

•

en:metachromasia of white blood cells and fibroblasts

•

en:platelet antibody positive

•

en:plasma aldosterone increased

•

en:patient cells show abnormal mitochondrial morphology

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

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

•

en:normal serum transferrin profiles

•

en:normal cerebrospinal fluid

•

en:nephrotic syndrome

•

en:multiple autoantibodies

•

en:molybdenum cofactor deficiency

•

en:methylmalonic aciduria

•

en:methylglutaconic aciduria, mild

•

en:methioninuria

•

en:increased csf and plasma gaba

•

en:low plasma methionine

•

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

•

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

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:decreased serum factor i (atypical hus)

•

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

•

en:decreased or absent serum and urinary chenodeoxycholic acid and cholic acid

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

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

•

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

•

en:decreased glycerol kinase activity

•

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

•

en:decreased csf pyridoxal

•

en:decreased activity of triosephosphate isomerase

•

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

•

en:decreased uros activity (1 patient)

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin heavy chain (147100, 14q32) locus

•

en:chromosomal instability

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

en:blood pyruvic acid increased

•

en:bleeding time normal

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:alpha ketoadipic aciduria

•

en:aldolase a deficiency

•

en:adrenocorticotropic hormone, increased

•

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

•

en:incomplete n-glycosylation of cellular proteins

•

en:decreased sulfite oxidase activity in fibroblasts

•

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

•

en:decrease plasma serine (fasting)

•

en:high m-component

•

en:hypouricemia

•

en:defective dna repair after ultraviolet radiation damage

•

en:hypocalcemia

•

en:hyperlactemia

•

en:hyperinsulinemia

•

en:hypercholesterolemia (reported in 2 patients)

•

en:hypercholesterolemia (disorder)

•

en:hyperchloridura

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:hyperarginemia

•

en:homozygous 122kb deletion 11p15-p14

•

en:homocystinuria

•

en:high nonceruloplasmin-bound serum copper

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:hemizygous deletion at 7q11.23

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:hair bulb tyrosinase present

•

en:defective mitochondrial respiratory enzyme activity

•

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

•

en:disseminated intravascular coagulation

•

en:elevated 2-ketoglutarate (urine)

•

en:deficiency of fat-soluble vitamins

•

en:elevated sed rate

•

en:epstein-barr viraemia

•

en:fumarase deficiency

•

en:glycogen storage disease type v

•

en:granular osmiophilic cytoplasmic deposits (grod) ultrastructurally in cells

•

en:enlarged cytoplasmic vacuoles in bone, muscle, and brain tissue

•

en:low plasma tryptophan (inflammatory type b)

•

en:increased serum plasminogen activator inhibitor-1 (pai1, 173360)

•

en:increased serum pyruvate in acute stage

•

en:increased serum unconjugated bilirubin

•

en:increased total bilirubin may occur

•

en:lack of ciliary motility

•

en:increased urinary urate

•

en:isochromosome often missing in lymphocyte

•

en:isovaleric acidemia

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:low free carnitine

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:increased serum gamma-ggt (231950)

•

en:immunoreactive pc protein

•

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

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:increased csf threonine

•

en:increased csf pyruvic acid

•

en:increased csf interferon

•

en:increased cross-linked c-terminal telopeptide of type i collagen

•

en:increased 18-ohb to aldosterone ratio

•

en:hypoglycosylated serum transferrin

•

en:hypoglycemia

•

en:hypernatremia

•

en:hyperlysinemia

•

en:hyperlipoproteinemia type i

•

en:hla-dqw6 association (dqb1*0602)

•

en:low serum alpha-fetoprotein (recessive)

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:uric acid normal

•

en:low serum igg and iga

•

en:reduced cd4+ count and proportionally increased cd8+ count

•

en:undetectable plasma dbh activity

•

en:tryptophanuria

•

en:transient hyperlipidemia

•

en:thyroid dyshormonogenesis 5

•

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

•

en:serum triglycerides normal

•

en:serum creatine kinase 20-70 times normal

•

en:serum cortisol decreased

•

en:serum aldosterone elevated

•

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

•

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

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

•

en:raised c-reactive protein

•

en:low to low-normal magnesium

•

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

•

en:platelet glycoprotein iiia deficiency

•

en:phosphaturia may disappear after a long period of time

•

en:partial deficiency of factor xii(c)

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:normal serum phytanic and pristanic acid

•

en:normal serum parathyroid hormone (pth)

•

en:normal serum biotin concentration

•

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

•

en:normal lysl hydroxylase activity

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:normal concentration of parathyroid hormone

•

en:normal axonal flare response after intradermal histamine injection

•

en:high sweat sodium and chloride

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6845585 • caches: c1=8 c2=1003 c3=1

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