Le Diko - en:elevated erythrocyte adenosine deaminase (eada)

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Le Diko - en:elevated erythrocyte adenosine deaminase (eada)

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en:elevated erythrocyte adenosine deaminase (eada)

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:reduced igg levels, particularly igg2 subclass

•

en:increased urinary excretion of gamma-aminobutyric acid (gaba)

•

en:prothrombin time increased

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

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

•

en:decreased palmitate oxidation

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

•

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

•

en:deletion of chromosome 18p11.2

•

en:elevated plasma ammonia

•

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

•

en:glutaric aciduria

•

en:increased csf immunoglobulin levels

•

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

•

en:impaired oxidation of pyruvate

•

en:intracellular accumulation of unesterified cholesterol

•

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

•

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

•

en:low-molecular-weight proteinuria

•

en:increased thyroid-stimulating hormone (tsh)

•

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

•

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

•

en:increased igm level

•

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

•

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

•

en:adrenocorticotropic hormone, increased

•

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

•

en:thyroid hormones increased

•

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

•

en:alpha ketoadipic aciduria

•

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

•

en:elevated plasma propionylcarnitine

•

•

en:irregularly shaped sperm heads

•

en:lactic acidemia (2p21del)

•

en:liver enzymes abnormal

•

en:low rai (radioactive iodine) uptake

•

en:thyroid dyshormonogenesis 4

•

en:transaminitis

•

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

•

en:methylmalonic aciduria

•

en:reticulocytosis

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:microdeletion 22q11.2

•

en:tyrosine iodination defect

•

en:markedly increased serum creatine kinase

•

en:increased serum creatine kinase (patient a)

•

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

•

en:increased plasma lactate

•

en:normal serum liver enzymes

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:absent enteric ganglia beginning at rectum and extending proximally by varying degrees

•

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

•

en:decreased or normal plasma insulin

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:decreased xanthine dehydrogenase activity

•

en:fasting ketosis

•

en:igm deficiency

•

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

•

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

•

en:some cilia show central complex and radial spoke defects

•

en:saccharopine dehydrogenase deficiency

•

en:elevated serum uric acid concentrations

•

en:serum transferrin glycosylation is normal

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:galactosuria

•

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

•

en:impaired creatine uptake in fibroblasts

•

en:decreased plasminogen activity

•

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

•

en:atrial abnormalities on electrocardiogram

•

en:vitamin d deficiency

•

en:subtelomeric deletion of chromosome 16p

•

en:phosphorylase kinase normal in muscle

•

en:decreased metabolism of thiopurine drugs

•

en:enzyme replacement therapy has not been effective

•

en:galactosuria without galactosemia

•

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

•

en:increased plasma proglucagon

•

en:increased serum alpha-mannosidase

•

en:increased serum beta-carotene

•

en:type 1 collagen overmodification

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:increased urinary propionyl glycine

•

en:normal serum transferrin profiles

•

en:microsomal hmg-coa reductase decreased

•

en:decreased csf glycine

•

en:increased neopterin in urine and csf

•

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

•

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

•

en:decreased tetrasialo-transferrin

•

en:pyruvic acidemia

•

en:abnormal fecal fat

•

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

•

en:decreased or absent gch1 activity

•

en:decreased plasma zinc levels

•

en:decreased udp-glcnac

•

en:deficiency of laminin in basement membranes

•

en:hypocalciuria or normocalciuria

•

en:increased alpha-fetoprotein (1 patient)

•

en:increased csf lactate during acute episodes

•

en:serum acid phosphatase normal

•

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

•

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

•

en:hemoglobin f increased

•

en:hyperkalemia

•

en:increased cellular sensitivity to uv light

•

en:increased lysine in serum and csf

•

en:low or absent iga levels

•

en:methemoglobin concentration 12 to 19%

•

en:normal concentration of parathyroid hormone

•

en:increased serum growth hormone levels

•

en:low or absent igm levels

•

en:low-normal igm

•

en:increased very-long chain fatty acids

•

en:4-hydroxyphenyllactic aciduria

•

en:homocystinemia

•

en:elevated plasma luteinizing hormone (lh)

•

en:elevated hcg (choriocarcinoma)

•

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

•

en:sweat test normal

•

en:polycythemia

•

en:metachromasia of white blood cells and fibroblasts

•

en:tenascin x deficiency (serum and fibroblasts)

•

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

•

en:transferase deficiency galactosemia

•

en:normal urinary pterins

•

en:normal exocrine pancreatic function

•

en:mild-moderate prolonged bleeding time

•

en:increased urinary excretion of cystine

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:high m-component

•

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

•

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

•

en:decreased serum iga

•

en:contiguous gene deletion syndrome

•

en:exercise-induced myoglobinuria in adults

•

en:decreased telomere length in lymphocytes

•

en:decreased serum cobalamin

•

en:decreased monoamine oxidase a activity

•

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

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:amylo-1,6-glucosidase deficiency

•

en:aminoaciduria (in some patients)

•

en:absent or abnormal thyroglobulin

•

en:abnormal cholesterol homeostasis

•

en:fluorescence of red blood cells by uv microscopy

•

en:increased urinary 2-hydroxybutyrate

•

en:mildly elevated acth

•

en:decreased plasma apolipoprotein c-ii

•

en:hyperglycolic aciduria

•

en:high serum inosine levels

•

en:generalized aminoaciduria

•

en:elevated urinary 3-methylglutarate

•

en:low absolute lymphocyte count

•

en:premature chromosome condensation

•

en:normal plasma and tissue carnitine

•

en:normal or mildly reduced serum cobalamin

•

en:normal maltase, isomaltase, and sucrase activity

•

en:normal urinary 17-ketosteroids

•

en:increased serum transferrin

•

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

•

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

•

en:elevated resting serum lactate, increased with exercise

•

en:elevated urinary mevalonic acid

•

en:increased plasma levels of bile acid intermediates

•

en:elevated testosterone

•

en:decreased switched memory b cells

•

en:increased ferritin

•

en:schirmer test shows alacrima

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:partial deficiency of factor xi (less common)

•

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

•

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

•

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

•

en:hypoglycemia

•

en:increased serum lactate

•

en:increased pyruvate in serum and csf

•

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

•

en:increased serum arylsulfatase a.

•

en:increased serum bilirubin due to hemolysis

•

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

•

en:increased serum osteocalcin

•

en:increased tissue levels of free fatty acids

•

en:increased urinary 2-methylacetoacetic acid

•

en:increased platelet aggregation with ristocetin

•

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

•

en:increased urinary magnesium

•

en:increased urinary catecholamines

•

en:serum transaminase increased

•

en:increased plasma pristanic acid

•

en:increased iga level

•

en:increased disialo- and asialotransferrin

•

en:increased csf and plasma ghb

•

en:increased ck-mb

•

en:increased 18-hydroxycortisol

•

en:impairment of urinary concentration

•

en:igg, elevated

•

en:hypoproteinemia due to hypercatabolism

•

en:hypoproteinemia

•

en:hypomethioninemia

•

en:hypobetalipoproteinemias

•

•

en:isovalericaciduria

•

en:mildly elevated transaminases

•

en:lactate dehydrogenase increased

•

en:normal dermal hydroxylysine content

•

en:reduced total and free carnitine in plasma and tissue

•

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

•

en:raised tsh level

•

en:prothrombin time low

•

en:prolonged bleeding time

•

en:prolonged activated partial prothrombin time (appt)

•

en:positive urine dnph screening test

•

en:phytanic acid increased

•

en:normal serum plasmalogen

•

en:normal serum phosphorus

•

en:normal or mildly increased serum creatine kinase

•

en:normal iga levels

•

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

•

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

•

en:hyperammonemia

•

en:mildly elevated hepatic enzymes

•

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

•

en:methylsuccinic aciduria

•

en:methylmalonic aciduria, mild

•

en:may have increased serum parathyroid hormone (pth)

•

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

•

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

•

en:low serum ceruloplasmin

•

en:low serum alkaline phosphatase in heterozygotes

•

en:low plasma citrulline

•

en:low cd4+ count

•

en:hyperbilirubinemia in those with liver failure

•

en:elevated serum bile acids

•

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

•

en:blood urea nitrogen increased

•

en:decreased galactokinase activity

•

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

•

en:decreased beta-galactosidase activity

•

en:decreased activity of phosphoglycerate kinase 1

•

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

•

en:cystathioninuria (lab finding)

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:creatine kinase normal between episodes

•

en:citrullinemia

•

en:cerebrospinal fluid oligoclonal bands

•

en:cells show increased sensitivity to ionizing radiation

•

en:cd4/cd8 ratio decreased

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

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

•

en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria

•

en:adenylosuccinase deficiency (finding)

•

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

•

en:absence of outer dynein arms

•

en:absence of chylomicrons in lymph and plasma

•

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

•

en:abnormal liver function tests during pregnancy, resolves postpartum

•

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

•

en:abnormal igfr1 function

•

en:abnormal dystrophin on muscle biopsy

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:aberrant gamma-interferon-mediated inflammation

•

en:decreased levels of certain coagulation factors

•

en:decreased levels of serum vitamin b12

•

en:high sweat electrolyte

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

en:high deoxypyridinoline/creatinine (in some patients)

•

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

•

en:hematuria, macroscopic and microscopic

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

en:factor viii deficiency

•

en:elevated urinary 3-methylglutaconate

•

en:elevated sweat chloride

•

en:elevated serum iron

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

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

•

en:elevated alkaline phosphatase (in one patient)

•

en:elevated acth

•

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

•

en:deficiency or absence of p91-phox protein

•

en:deficiency of fat-soluble vitamins

•

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

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:decreased serum factor i (atypical hus)

•

en:decreased plasma serine

•

en:decreased plasma arginine

•

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

•

en:decreased or absent dihydropteridine reductase activity

•

en:sce normal in heterozygotes

•

en:cerebrospinal fluid lymphocytosis

•

en:serum triglycerides increased

•

en:increased serum pyruvate

•

en:low csf creatine

•

en:liver transaminases normal to slightly increased

•

en:large spermatozoa

•

en:interstitial or terminal deletion of 18q

•

en:increased urine vanillactic acid (vla)

•

en:increased urinary tricarboxylic acid intermediates

•

en:increased urinary taurine

•

en:increased urinary sulfatide excretion

•

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

•

en:increased urinary and serum glycine

•

en:increased urinary 2-ketoglutarate (variable)

•

en:increased susceptibility to ebv infection

•

en:increased serum iduronate sulfatase

•

en:low plasma tryptophan (inflammatory type b)

•

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

•

en:increased serum alkaline phosphatase (in some patients)

•

en:increased interferon-alpha signal

•

en:increased il1b increased soluble il2r

•

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

•

en:increased csf protein

•

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

•

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

•

en:inactive mutant form of red cell carbonic anhydrase b in one sibship

•

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

•

en:hypomagnesemia

•

en:hyperlysinemia

•

en:low or absent luteinizing hormone (lh)

•

en:march myoglobinuria

•

en:histiocytic infiltration of liver, spleen, and lungs

•

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

•

en:xanthine nephrolithiasis

•

en:sialylation defects

•

en:uric acid normal

•

en:some cilia show abnormal beating patterns or immotility

•

en:severely decreased palmitate oxidation

•

en:serum triglycerides normal

•

en:serum prolactin increased

•

en:serum gastrin increased

•

en:serum ferritin hyperglycosylation

•

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

•

en:reduced beating amplitudes in cilia

•

en:proteinuria in those with cystic kidneys

•

en:plasma ammonia not elevated

•

en:mild elevation of triglycerides

•

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

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

en:normal urinary cyclic amp response to pth administration

•

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

•

en:normal plasma total homocysteine

•

en:normal plasma phytanic acid

•

en:normal phytanic acid

•

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

•

en:normal-elevated plasma testosterone (male range)

•

en:neutrophilia, both basal and during infections

•

en:myoglobinuria with extreme exertion

•

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

•

en:hyperchloridura

•

en:low or undetectable c-peptide

•

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

•

en:absent or severely reduced levels of serum immunoglobulins

•

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

•

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

•

en:cystathionine beta-synthase deficiency disease

•

en:complex organic aciduria

•

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

•

en:borderline elevated low-density lipoprotein

•

en:blood pyruvic acid increased

•

en:antiphospholipid antibody

•

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

•

en:aminoaciduria (less common)

•

en:aminoaciduria, intermittent

•

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

•

en:abnormal urinary mucopolysaccharides (elevated unsaturated nonsulfated disaccharides and decreased unsaturated 6-sulfated disaccharides)

•

en:decreased activity of thiopurine s-methyltransferase

•

en:abnormal nasal potential difference

•

en:abnormal liver function tests (in some patients)

•

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

•

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

•

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

•

en:abnormal cartilage collagen on em

•

en:urinary excretion of mucopolysaccharides

•

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

•

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

•

en:hereditary fructose intolerance

•

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

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:decreased activity of mitochondrial complex i

•

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

•

en:elevated androstenedione

•

en:heparin cofactor ii deficiency (disorder)

•

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

•

en:decreased apoa-i and apoa-ii

•

en:epstein-barr viraemia

•

en:elevated urine unsulfated chondroitin sulfate

•

en:elevated urinary 2-ethylhydracrylate

•

en:elevated pyruvate (in most patients)

•

en:elevated plasma methionine (methioninemia)

•

en:elevated long chain fatty acids

•

en:elevated liver transaminases

•

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

•

en:defective (ca2+) mobilization in t cells

•

en:decreased urinary calcium and phosphate excretion

•

en:decreased ubiquinone-10

•

en:decreased serum haptoglobin

•

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

•

en:decreased cholesterol (less common)

•

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

•

en:decreased factor xi

•

en:decreased glomerular filtration rate (gfr)

•

en:decreased levels of cpt2 protein

•

en:glutathione deficiency

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:decreased methionine synthase activity

•

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

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

en:decreased plasma triglycerides

•

en:mildly prolonged bleeding time 10-12 minutes

•

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

•

en:microtubule disorganization in some cilia

•

en:neutral hyperaminoaciduria

•

en:methemoglobinemia

•

en:increased urinary 3-oh-propionic acid

•

en:normal complex ii activity

•

en:normal endocrinologic studies (growth hormone, somatomedin c, thyroid function)

•

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

•

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

•

en:normal lysyl oxidase activity

•

en:normal or mildly decreased arylsulfatase a activity

•

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

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:lysosomal-like storage vacuoles in various tissues

•

en:low urinary cyclic amp response to pth administration

•

en:low to absent high density lipoprotein (hdl) (detroit 107680.0011)

•

en:low or normal serum igm

•

en:low or absent prolactin (pl)

•

•

en:isochromosome 12p (i(12p))

•

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

•

en:intermittent dicarbonic aciduria

•

en:increased urinary sulfatides

•

en:increased urinary ketones

•

en:increased urinary hypoxanthine

•

en:normal transferrin saturation

•

en:increased urinary excretion of 4-hydroxybutyric acid (ghb)

•

en:normal serum complement levels

•

en:absent axonal flare response to intradermal histamine injection

•

en:normocalcemia

•

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

•

en:increased urinary 3-methylcrotonylglycine

•

en:alpha-galactosidase a deficiency in plasma, leukocytes, or fibroblasts

•

en:aldolase a deficiency

•

•

en:absence of peroxidase staining in neutrophils and monocytes

•

en:abnormal transaminases (1 patient)

•

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

•

en:abnormal columnization of chondrocytes

•

en:4-hydroxyphenylactic aciduria

•

en:urocanase deficiency

•

en:urine occasionally port-wine in color secondary to porphobilinogen

•

•

en:undetectable urinary hypoxanthine

•

en:tyrosinemia (transient, resolves in infancy)

•

en:no elevation of free fatty acids

•

en:serum osmolality decreased

•

en:serum growth hormone increased

•

en:serum ammonia increased

•

en:serum albumin low result

•

en:pyrimidinuria

•

en:prolonged partial thromboplastin time

•

en:presence of serum anti-lu3 antibodies

•

en:platelet aggregation decreased

•

en:plasma triglycerides increased

•

en:pcs involves most of all chromosomes of a metaphase

•

en:panhypogammaglobulinemia

•

en:orotic aciduria

•

en:occasionally mild elevation of csf protein

•

en:no increased sensitivity to oxidative species

•

en:increased urinary 3-oh-butyric acid

•

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

•

en:increased serum pyruvate, mild

•

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

•

en:decreased transferrin increased serum iron

•

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

•

en:decreased serum factor b (atypical hus)

•

en:decreased serum ceruloplasmin

•

en:decreased phytanic acid oxidase activity

•

en:decreased or increased serum testosterone

•

en:decreased nasal nitric oxide (in some patients)

•

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

•

en:decreased hexokinase activity in red blood cells

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

en:decreased aminoacylase-1 activity

•

en:decreased activity of mitochondrial complex ii (succinate dehydrogenase)

•

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

•

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

•

en:defective mitochondrial respiratory enzyme activity

•

en:cd4+/cd8+ ratio is reversed

•

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

•

en:anti-ds dna antibody

•

•

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

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

en:accumulation of unprocessed mt-trna intermediates in skeletal muscle cells and fibroblasts

•

en:absent axonal flare response after intradermal histamine injection

•

en:abnormal liver function tests (less common)

•

en:abnormal liver enzymes during illness

•

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

•

en:5-hiaa csf may be normal or decreased

•

•

en:decrease plasma serine (fasting)

•

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

•

en:increased serum parathyroid hormone (pth)

•

en:hypoglycosylation of plasma glycoproteins

•

en:increased serum lactate (patient a)

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:increased plasma homogentisic acid (hga)

•

en:increased plasma and urinary pipecolic acid

•

en:increased hepatic parenchymal cell stainable iron

•

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

•

en:increased csf, plasma, and urinary 3-methoxytyrosine

•

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

•

en:increased chromosomal breakage

•

en:increased bone-specific alkaline phosphatase

•

en:increased 18-oxocortisol

•

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

•

en:immotile or weakly motile cilia

•

en:hyperuricuria

•

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

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

en:hypergammaglobulinemia

•

en:hypercholesterolemia

•

en:hyperchloremia (mean 111 mm)

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:glycogen storage disease type vi

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:elevated fasting glucose

•

en:elevated csf glycine

•

en:elevated csf/plasma glycine ratio

•

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

•

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

•

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

•

en:aminoaciduria (1 patient)

•

en:elevated serum phosphate in heterozygotes

•

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

•

en:increased serum pyruvate in acute stage

•

en:intracellular granular material on ultrastructural analysis

•

en:intermittent severe hypoglycemia (in some patients)

•

en:incresased urinary pyruvate

•

en:increased urinary succinic acid

•

en:increased urinary methylcitrate

•

en:increased urinary isobutyryl glycine

•

en:increased urinary excretion of l-xylulose

•

en:increased urinary excretion of camp

•

en:increased urinary 2-methylbutyrylglycine

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased transferrin saturation (>60%)

•

en:increased serum triglycerides (in some patients)

•

en:increased serum gamma-ggt (231950)

•

en:karyomegaly may be found in other visceral organs

•

en:increased serum acylcarnitine during febrile crisis

•

en:increased prevalence among the native american lumbee indians

•

en:increased excretion of urobilinogen

•

en:increased disialotransferrin and asialotransferrin levels

•

en:increased csf threonine

•

en:increased csf interferon

•

en:increased circulating renin level

•

en:increased blood alanine

•

en:increased 11-deoxycortisol

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

en:immunoreactive pc protein

•

en:igg deficiency

•

en:hyposialylation of o-linked serum glycans

•

en:iron overload (in some patients)

•

en:low plasma methionine

•

en:hypogammaglobulinemia, profound

•

en:positive antinuclear antibody test

•

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

•

en:very low leptin level

•

en:variable hyperlipidemia

•

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

•

en:transient hyperlipidemia

•

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

•

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

•

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

•

en:severely decreased antigen levels of vwf and factor viii

•

en:serum phosphate concentration below normal

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:reduced erythrocyte glucose/hexose transport

•

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

•

en:pms show deficient oxidation of debrisoquine

•

en:low serum uric acid

•

en:platelet glycoprotein iiia deficiency

•

en:platelet antibody positive

•

en:plasma protein c deficiency

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:occasional hypomagnesemia

•

en:normal or mildly reduced sphingomyelinase activity

•

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

•

en:neonatal hyperbilirubinemia

•

en:myoglobinuria after exertion

•

en:mitochondrial malic enzyme reduced

•

en:mild hyperammonemia

•

en:mildly elevated urinary mevalonic acid

•

en:mean platelet volume (mpv) 12.6fl

•

en:low to very low hdl cholesterol

•

en:hypoglycosylated serum transferrin

•

en:saposin a deficiency (finding)

•

en:hypocalcemia (64% of adults)

•

en:decreased intracellular fmr protein

•

en:echocardiogram abnormal

•

en:dyskinetic ciliary motility

•

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

•

en:diminished lymphocyte response to phytohemaglutinin

•

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

•

en:deficiency of laminin alpha-2 chain of merosin (lama2, 156225) in muscle

•

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

•

en:decreased serum vitamin a

•

en:decreased serum androgens

•

en:decreased platelet derived growth factor

•

en:decreased plasma and urinary ornithine

•

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

•

en:decreased mucosal alkaline phosphatase

•

en:decreased fibroblast beta-hexosaminidase

•

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

•

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

•

en:decreased cortisol-binding globulin

•

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

•

en:decreased axonal flare response after intradermal histamine injection

•

en:decreased agt activity

•

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

•

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

•

en:cytosolic phosphoenolpyruvate carboxykinase deficiency

•

en:csf pleocytosis, particularly of lymphocytes

•

en:chronic hypoxemia

•

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

•

en:cholesterol normal

•

en:hyperornithinemia

•

en:elevated afp (endodermal sinus tumor)

•

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

•

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

•

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

•

en:hypermagnesiuria

•

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

•

en:hyperlactemia

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:hyperammonemia, episodic

•

en:homocitrullinuria

•

en:high ebv viral load

•

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

•

en:hepatic gamma-cystathionase deficiency

•

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

•

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

•

en:glutaric acidemia type 1

•

en:globulin gamma serum plasma increased result

•

en:homocystinuria

•

en:gaucher cells, diffuse, in spleen, liver, lymph nodes, bone marrow, central nervous system

•

en:elevated plasma alloisoleucine

•

en:fumarase deficiency

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:elevated serum insulin-to-c-peptide ratio

•

en:elevated serum levels of 2-prime deoxyadenosine

•

en:elevated serum parathyroid hormone (pth)

•

en:elevated serum iron and iron binding capacity

•

en:elevated total iron-binding capacity

•

en:fibroblasts are small and rounded with prominent nucleoli

•

en:foam cells contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy

•

en:fibroblasts have increased activity of serine palmitoyltransferase (spt, 605712)

•

en:elevated urinary hyaluronic acid levels

•

en:elevated plasma campesterol

•

en:factor vii deficiency

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:loss of ciliary beat coordination

•

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

•

en:low-to-normal csf lactate

•

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

•

en:low maximal oxygen uptake on exercise testing

•

en:infantile hypophosphatasia

•

en:increased urinary dopamine

•

en:increased urinary carnitine

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:increased serum acylcarnitines

•

en:increased uric acid level

•

en:increased serum s-adenosylmethionine

•

en:increased serum direct bilirubin

•

en:increased serum creatine kinase in patients with muscle involvement

•

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

•

en:increased plasma renin activity

•

en:increased plasma creatine

•

en:increased c10:2-carnitine

•

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

•

en:low serum magnesium

•

en:inappropriately normal or increased plasma hepcidin

•

en:hypernatriuria

•

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

•

en:presence of cytochrome b(-245)

•

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

•

en:prolidase deficiency

•

en:thrombocytopenia

•

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

•

en:structural abnormalities seen on chromosome analysis

•

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

•

en:severe hypernatremia in neonatal period

•

en:severely impaired ciliary motility

•

en:serum cortisol elevated

•

en:serum corticosterone increased

•

en:serum complement decreased

•

en:serum calcium normal

•

en:poor mitogenic response to growth factors

•

en:low urinary orotic acid

•

en:plasmalogen deficiency

•

en:phospholipid antibody positive

•

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

•

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

•

en:normal erythrocyte gs activity

•

en:normal ciliary structure and function

•

en:normal cd8+/cd4+ ratio

•

en:normal blood lactate

•

en:neonatal hypocalcemia

•

en:mild hypertriglyceridemia

•

en:mild elevation of transaminases

•

en:hypercalciuria (in some patients)

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:high urinary orotic acid

•

en:decreased acid sphingomyelinase activity

•

en:decreased glutamine in bodily fluids

•

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

•

en:decreased decr enzyme activity

•

en:decreased copper, iron, zinc

•

en:decreased c3 activity

•

en:decreased antithrombin iii (rare)

•

en:decreased adiponectin

•

en:decreased activity of tyrosine hydroxylase

•

en:decreased activity of the pdh phosphatase

•

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

•

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

•

en:coarse metachromatic granules in white blood cells

•

en:decreased or absent histidase activity

•

en:chylomicronemia, refractory fasting

•

en:chromosomal mosaicism in cultured cells

•

en:bone marrow hypoplasia (in some patients)

•

en:ballooned neurons

•

en:aprt deficiency measured in erythrocyte lysate

•

en:alkaline phosphatase decreased

•

en:absent platelet agglutination in presence of ristocetin

•

en:abnormal liver enzymes (in some patients)

•

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

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:type i, classic, decreased antithrombin iii levels

•

en:decreased mitochondrial complex iii activity in muscle

•

en:decreased plasma lpl levels (in some patients)

•

en:high urinary copper

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:high ft3/ft4 ratio

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:glucosuria, mild, intermittent

•

en:elevated white blood cell cystine

•

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

•

en:elevated serum parathyroid hormone (pth) level

•

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

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:elevated plasma insulin

•

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

•

en:elevated inflammatory markers

•

en:decreased secretion of igf1 in response to gh administration

•

en:elevated androstenedione and testosterone

•

en:elevated alkaline phosphatase

•

en:duplication or deletion at 11p15.5

•

en:direct coombs test negative

•

•

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

•

en:defect in oxidative phosphorylation

•

en:defect in mitochondrial and peroxisomal fission

•

en:decreased tetrasialotransferrin levels

•

en:decreased serum rt3

•

en:decreased serum alpha-2 macroglobulin levels

•

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

•

en:ceruloplasmin decreased

•

en:unresponsive to acth stimulation

•

en:low 25-oh-vitamin d level

•

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

•

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

•

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

•

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

•

en:mildly elevated creatine phosphokinase

•

en:median mean platelet volume 13fl

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:low to low-normal magnesium

•

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

•

en:low apolipoprotein

•

•

en:normal or mildly increased thyroid-stimulating hormone (tsh)

•

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

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:increased urinary organic acids (in some patients)

•

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

•

en:increased urinary carnitine esters

•

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

•

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

•

en:increased serum lactate (mild)

•

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

•

en:increased serum ammonia (group b)

•

en:increased serum, urinary, and csf lysine

•

en:normal or increased serum phosphate

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:increased csf lactate

•

en:raised c-reactive protein

•

en:widespread interstitial fibrosis (visceral organs)

•

en:very low igg

•

en:urine odor, maple syrup

•

en:transferrin saturation increased

•

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

•

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

•

en:some fragmented or disrupted golgi

•

en:shortened telomeres (in 1 of 2 patients)

•

en:serum iron normal

•

en:serum carnitine deficiency

•

en:rheumatoid factor negative

•

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

•

en:normal sweat electrolytes

•

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

•

en:premature separation of centromeric heterochromatin

•

en:patient cells show defective dna repair in response to irradiation and free radical damage

•

en:patient cells show abnormal mitochondrial morphology

•

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

•

en:parathyroid hormone (pth) absent to low

•

en:orotic acid crystalluria

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:no evidence of perinatal infection

•

en:no chromosomal breakage

•

en:normal to mildly increased mucopolysacchariduria

•

en:increased free cyanocobalamin in fibroblasts

•

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

•

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

•

en:decreased circulating aldosterone level

•

en:decreased testosterone level

•

en:decreased or absent apolipoprotein a-i

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:decreased methylmalonyl-coa mutase activity

•

en:decreased levels of the e2 subunit protein

•

en:decreased levels of plasma vwf antigen

•

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

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:decreased iga, igg, igm

•

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

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:decreased b cells

•

en:deficiency of fructokinase

•

en:decreased adenosylcobalamin

•

en:decreased activity of dihydrofolate reductase

•

en:coagulopathy (inr = 2.2 - 3.5)

•

en:chondroitin 6-sulfate excretion in urine

•

en:bilirubin may or may not be increased

•

en:bicarbonaturia

•

en:absent 7-dehydrocholesterol

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

en:abnormal oral glucose tolerance

•

en:increased 18-ohb to aldosterone ratio

•

en:'cloudy' or 'pink' blood (lipemia)

•

en:defective glcnac-pi synthesis

•

en:decreased dermal hydroxylysine content

•

en:deficient efflux of intracellular cholesterol

•

en:eosinophilia

•

en:immotile cilia

•

en:hyperthreoninemia

•

en:hypercholesterolemia (disorder)

•

en:hyperchloremia (mean 114 mm)

•

en:hla-dqw6 association (dqb1*0602)

•

en:high plasma asparagine

•

en:hb h erythrocyte inclusions

•

en:hair bulb tyrosinase present

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:fibroblasts show decreased activity of mitochondrial respiratory complex i, complex iii, complex iv, and complex v

•

en:exercise-induced myoglobinuria

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

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

•

en:elevated plasma phytanic acid

•

en:elevated plasma beta-sitosterol (sitosterolemia or phytosterolemia)

•

en:elevated alpha-ketoglutarate (in most patients)

•

en:elevated 8-dehydrocholesterol

•

en:elevated 17-hydroxyprogesterone

•

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

•

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

•

en:distal xp22.3 segmental monosomy

•

en:dilated rough endoplasmic reticulum (rer)

•

en:dhea sulfotransferase below limit of detection

•

en:elevated serum protein

•

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

•

en:hyperlipoproteinemia type i

•

en:hyperglycemias, postprandial

•

en:hyperglutaminemia

•

en:glycosuria (less common)

•

en:hypercalcemia

•

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

•

en:hepatic argininosuccinate synthetase deficiency

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:hypocalcemia

•

en:galactosylation defects

•

en:hypoalphalipoproteinemia

•

•

en:hypocalciuria

•

en:hypoglycemia, intermittent

•

•

en:hyponatremia

•

en:hyponatremic dehydration, rarely

•

en:iiga and igg antigliadin antibodies (aga)

•

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

•

en:increased gamma-interferon

•

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

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:increased serum aryl-sulfatase a (10-20x)

•

en:frequent deletions of chromosome 9 in melanoma

•

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

•

en:decreased activity of pyruvate dehydrogenase complex

•

en:foam cells in visceral organs and cns

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:increased serum bilirubin (in some patients)

•

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

•

en:decreased csf pyridoxal

•

en:decreased natural killer cells

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

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

•

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

•

en:decreased serum bun

•

en:decreased serum complement factor h

•

en:decreased serum leptin

•

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

•

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

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

en:dermatan and heparan sulfate excretion in urine

•

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

•

en:electrolyte disturbances from intractable diarrhea

•

en:elevated 7-dehydrocholesterol

•

en:elevated circulating parathyroid hormone (pth) level

•

en:elevated hepatic transaminases

•

en:elevated plasma acth

•

en:elevated plasma estrogen

•

en:elevated plasma levels of lp(a)

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:elevated sweat chloride (some)

•

en:elevated total bilirubin

•

en:increased serum beta-hexosaminidase

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

en:increased serum deoxyuridine

•

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

•

en:normal tyrosinase

•

en:no dicarboxylic aciduria

•

en:no lactic acidosis

•

en:patient cells show increased chromosome breakage

•

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

•

•

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

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:prolonged prothrombin time (pt)

•

en:pyruvate-induced insulin secretion

•

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

•

en:reduced unsaturated serum cobalamin binding capacity

•

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

•

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

•

en:serum aldosterone elevated

•

en:serum cholesterol low or normal

•

en:serum folate low

•

en:serum thyroxine may be decreased or normal

•

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

•

en:thyroid dyshormonogenesis 5

•

en:thyroid hormone organification defect

•

en:t cells may be increased or decreased

•

en:unprocessed 3-oxoacyl coa thiolase

•

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

•

en:vitamin b12 deficiency (uncommon)

•

en:normal serum phytanic and pristanic acid

•

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

•

en:increased serum erythropoietin (epo, 133170)

•

en:inner and outer dynein arm defects, variable

•

en:increased serum ige

•

en:increased serum lactate during metabolic crisis

•

en:increased serum lactate in acute stage

•

en:increased serum manganese

•

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

•

en:increased tissue long-chain fatty acids

•

en:increased total bilirubin may occur

•

en:increased uric acid with exercise

•

en:increased urinary 2-oxoglutaric acid

•

en:increased urinary dicarboxylic acid, transient

•

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

•

en:intermittent 3-methylglutaconic aciduria

•

en:normal eosinophil peroxidase activity

•

en:iodide organification defect

•

en:ketonuria (1 patient)

•

en:lactate high

•

en:lactic acidosis

•

en:little to absent aspartylglucosaminuria activity

•

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

•

en:low density lipoprotein increased

•

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

•

en:low plasma arginine

•

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

•

en:median mean platelet volume (mpv) 18fl

•

en:methylglutaconic aciduria, mild

•

en:decreased activity of 2-oxoacid dehydrogenases

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6845782 • caches: c1=8 c2=1003 c3=1

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