Le Diko - en:frequent deletions of chromosome 9 in melanoma

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Le Diko - en:frequent deletions of chromosome 9 in melanoma

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le dictionnaire d'associations lexicales
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en:frequent deletions of chromosome 9 in melanoma

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:vitamin k deficiency

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:serum cortisol decreased

•

en:absence of chylomicrons in lymph and plasma

•

en:defects in mitochondrial oxidative phosphorylation

•

en:deficiency of laminin in basement membranes

•

en:female carriers show markedly skewed x inactivation

•

en:increased urinary dopamine

•

en:reduced ferrochelatase activity

•

en:elevated 1,25(oh)2 d3

•

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

•

en:elevated white blood cell cystine

•

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

•

en:glycogen storage disease type v

•

en:hematuria (less common)

•

en:increased biliverdin in bodily fluids

•

en:low cholesterol esterification rates

•

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

•

en:increased serum lactate (in some patients)

•

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

•

en:loss of ciliary beat coordination

•

en:karyotype analysis normal finding

•

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

•

en:increased serum alpha-mannosidase

•

en:galactosemia

•

en:elevated liver enzymes

•

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

•

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

•

en:normal complex ii activity

•

en:very low iga

•

en:prolonged partial thromboplastin time

•

en:decreased tetrasialo-transferrin

•

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

•

en:mildly elevated creatine phosphokinase

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:elevated ferritin l subunit

•

en:increased serum methionine (reported in 2 cases)

•

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

•

en:decreased levels of plasma factor viii

•

en:decreased activity of dihydrofolate reductase

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

en:abnormal karyotype in 3 patients involving distal 6p

•

en:increased serum lactate hydrogenase

•

en:absence of hepatic udp-glucuronyl-transferase

•

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

•

en:phospholipid antibody positive

•

en:p5c levels increased in urine

•

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

•

en:increased urinary magnesium

•

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

•

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

•

en:hyperchloremia (mean 111 mm)

•

en:glomerular filtration rate decreased

•

en:elevated urine unsulfated chondroitin sulfate

•

en:decreased eno3 activity

•

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

•

en:abnormal serum glycoproteins

•

en:decreased fumarate hydratase activity

•

en:neutral hyperaminoaciduria

•

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

•

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

•

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

•

•

en:serum creatine kinase may be normal or increased

•

en:serum creatine kinase 20-70 times normal

•

en:pyruvate-induced insulin secretion

•

•

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

•

en:normal transferrin isoelectric profile

•

en:urine cortisol, increased

•

en:low to normal serum calcium

•

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

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

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

•

en:normal renin level

•

en:hypouricemia

•

en:high urinary copper

•

en:low or absent igm levels

•

en:increased urinary sialylglycopeptides

•

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

•

•

en:deficiency or absence of p22-phox protein

•

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

•

en:serum calcium normal

•

en:saccharopine dehydrogenase deficiency

•

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

•

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

•

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

•

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

•

en:very low density lipoprotein increased

•

en:increased urinary 2-oxoglutaric acid

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

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

•

en:increased levels of carcinoembryonic antigen

•

en:hypoalbuminemia

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

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

•

en:increased urinary uracil

•

en:bone marrow hypoplasia (in some patients)

•

en:coarse metachromatic granules in white blood cells

•

en:decreased methylcobalamin (mecbl)

•

en:decreased respiratory chain complex iii activity in multiple tissues

•

en:elevated biopterin in csf

•

en:hypokalemia occurs during paralytic attacks

•

en:increased platelet aggregation with ristocetin

•

en:increased nasal-potential difference (some)

•

en:reactive hypoglycemia

•

en:3-methylglutaric aciduria

•

en:argininosuccinic aciduria

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

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

•

en:decreased b cells

•

en:elevated urinary phosphoethanolamine

•

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

•

en:xanthine nephrolithiasis

•

en:vitamin d deficiency

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

en:cd4+/cd8+ ratio is reversed

•

en:hyperammonemia

•

en:intermittent dicarbonic aciduria

•

en:increased ige level

•

en:antineutrophil antibody positivity

•

en:bleeding time normal

•

en:increased urinary glycerol

•

en:intracellular granular material on ultrastructural analysis

•

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

•

en:urine osmolarity decreased

•

en:glyoxalase deficiency

•

en:hyperhomocystinemia

•

en:increased serum transferrin

•

en:increased urinary prostaglandin e2

•

en:serum growth hormone increased

•

en:thymic hormone decreased

•

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

•

en:hepatic argininosuccinate synthetase deficiency

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

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

•

en:low or normal serum erythropoietin

•

en:glutaric acidemia type 1

•

en:decreased serum iga

•

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

•

en:low or undetectable insulin

•

en:abnormal liver function tests during pregnancy, resolves postpartum

•

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

•

en:coombs positive hemolytic anemia

•

en:decreased fbp1 enzyme activity

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:hyperphosphatemia, transient

•

en:hyperprostaglandinuria

•

en:amylo-1,6-glucosidase deficiency

•

en:partial deficiency of factor xiii(c)

•

en:elevated pregnenolone

•

en:presence of serum anti-lu3 antibodies

•

en:increased neopterin in urine and csf

•

•

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

•

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

•

en:decreased telomerase activity

•

en:decreased serum thyroxine (t4)

•

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

•

en:low copper and ceruloplasmin

•

en:increased pristanic acid

•

en:ketoses, metabolic

•

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

•

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

•

en:increased urinary mannose-containing oligosaccharides

•

en:increased urinary ketones

•

en:increased urinary acetoacetic acid

•

en:increased urinary, plasma, and csf dihydrouracil

•

en:increased serum triiodothyronine (t3)

•

en:increased serum direct bilirubin

•

en:increased 18-oxocortisol

•

en:increased plasma levels of bile acid intermediates

•

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

•

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

•

en:increased fibroblast free sialic acid

•

en:increased csf protein during acute illness

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:hypoproteinemia

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

en:hyperglycinemia

•

en:hypergammaglobulinemia

•

en:hypercholesterolemia (10%)

•

en:lysosomal-like storage vacuoles in various tissues

•

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

•

en:prolonged bleeding time

•

en:marked hypoalphalipoproteinemia (in some patients)

•

en:protein urine absent

•

en:urinary excretion of mucopolysaccharides

•

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

•

en:thrombocytopenia (33-120 x 10(9)/l)

•

en:tay-sachs disease

•

en:systemic amyloidosis may occur

•

en:sweat test normal

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:serum prolactin decreased

•

en:serum folate normal

•

en:routine liver function tests normal

•

en:pyruvic acidemia

•

en:high serum guanosine levels

•

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

•

en:predominance of the d-stereoisomer

•

en:platelet function test normal

•

en:pcs involves most of all chromosomes of a metaphase

•

en:panhypogammaglobulinemia

•

en:orotic aciduria

•

en:normal prolyl 4-hydroxylase activity

•

en:normal plasma and tissue carnitine

•

en:normal isoelectric focusing of serum transferrin

•

en:monoclonal gammopathy

•

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

•

en:mitochondria dna deletion

•

en:homocysteinemia

•

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

•

en:high ft3/ft4 ratio

•

en:a small minority of patients have translocations and inversions involving 16p13.3

•

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

•

en:decreased activity of the pdh phosphatase

•

en:decreased activity of mitochondrial respiratory complexes

•

en:decreased activity of galactocerebrosidase

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

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

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:creatine decreased

•

en:chylomicronemia, refractory fasting

•

en:cholesterol low

•

en:cell studies show increased dna breakage

•

en:antiribonuclear protein positive

•

en:decreased csf methyltetrahydrofolate (mthf)

•

en:alkaline phosphatase serum increased

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

en:absent alkyl-dhap synthase activity

•

en:absence of outer dynein arms

•

en:absence of beta-ureidopropionase activity and protein in liver biopsy

•

en:abnormal liver enzymes (in some patients)

•

en:abnormal liver enzymes, intermittent (1 patient)

•

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

•

en:abnormal fecal fat

•

en:abnormal acylcarnitine profiles

•

en:laboratory abnormalities

•

en:decreased complement factor d

•

en:decreased decr enzyme activity

•

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

•

en:elevated acth

•

en:heparan sulfate excretion in urine

•

en:extremely low creatine excretion

•

en:excessive iodide trapping

•

en:elevated serum parathyroid hormone (pth)

•

en:elevated serum acid phosphatase

•

en:elevated sed rate

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

en:elevated hcg or afp or both (embryonal carcinoma)

•

en:elevated gastrin concentration

•

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

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

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

•

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

•

en:defect in mitochondrial and peroxisomal fission

•

en:decreased tissue total and free carnitine

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased serum and muscle coenzyme q

•

en:decreased plasma serine

•

en:decreased plasma arginine

•

en:decreased or normal plasma insulin

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased levels of certain coagulation factors

•

en:decreased hdl cholesterol

•

en:decreased fibroblast iduronate sulfatase

•

en:very long chain fatty acid accumulation

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:abnormal isoelectric focusing of serum transferrin

•

en:increased urinary succinic acid

•

en:microsomal hmg-coa reductase decreased

•

en:lysine-ketoglutarate reductase deficiency

•

en:low serum alpha-fetoprotein (recessive)

•

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

•

en:low or absent iga levels

•

en:lactic acidemia

•

en:ketonuria (1 patient)

•

en:isochromosome often missing in lymphocyte

•

en:intracellular redox disturbance (reduced cytoplasm and oxidized mitochondria (group b))

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:inner and outer dynein arm defects, variable

•

en:increased urinary excretion of l-xylulose

•

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

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased urinary 2-methylbutyrylglycine

•

en:increased tissue levels of triglycerides

•

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

•

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

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased serum beta-hexosaminidase

•

en:increased rai (radioactive iodine) uptake

•

en:increased plasma lactate

•

en:increased lysine in serum and csf

•

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

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

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

•

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

•

en:serum lactate is usually normal

•

en:very low leptin level

•

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

•

en:urine uric acid decreased

•

en:urine odor, maple syrup

•

en:undetectable serum l-transferrin (homozygous patient)

•

en:undetectable plasma dbh activity

•

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

•

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

•

en:shortened telomeres (in 1 of 2 patients)

•

en:severe amyloid angiopathy

•

en:serum pristanic acid increased

•

en:serum bilirubin increased

•

en:normal serum creatine kinase

•

en:reticulocytosis

•

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

•

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

•

•

•

en:phosphaturia

•

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

•

en:paraproteinemia

•

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

•

en:no evidence of common prenatal infections

•

en:normal serum transferrin profiles

•

en:increased histidine in blood, urine, and csf

•

en:pancreatic trypsinogen deficiency

•

en:increased csf interferon

•

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

•

en:decreased switched memory b cells

•

en:decreased serum luteinizing hormone (lh)

•

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

•

en:decreased serum haptoglobin

•

en:decreased serum cholesterol (in some)

•

en:decreased plasma triglycerides

•

en:decreased plasma hdl (<1/10 of normal levels)

•

en:decreased plasma esterified cholesterol

•

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

•

en:decreased or absent udp-glucuronyl-transferase activity

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

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

•

en:deficiency of fructokinase

•

en:cystathionine beta-synthase deficiency disease

•

en:complex organic aciduria

•

en:cholesterol normal

•

•

en:aminoaciduria, intermittent

•

en:alpha 1 foetoprotein amniotic fluid increased

•

en:accumulation of cholesterol esters in various tissues

•

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

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:abnormal lipid profile

•

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

•

en:decreased urinary calcium and phosphate excretion

•

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

•

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

•

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

•

en:hla-dqw6 association (dqb1*0602)

•

en:immunoreactive pc protein

•

en:dhea sulfotransferase below limit of detection

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:hb h erythrocyte inclusions

•

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

•

en:glycogen storage disease type vii

•

en:generalized aminoaciduria

•

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:glucose-6-phosphate deficiency

•

en:eosinophilia, mild

•

en:elevated circulating parathyroid hormone (pth) level

•

en:dicarboxylic aciduria

•

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 urinary and csf ribitol and d-arabitol

•

en:elevated blood spot hydroxybutyryl carnitine

•

en:hyperprolinemia type 1

•

en:elevated erythrocyte adenosine deaminase activity

•

en:elevated sweat chloride

•

en:elevated pth (parathyroid hormone)

•

en:elevated serum bile acids

•

en:increased renal tubular phosphate reabsorption

•

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

•

en:increased serum beta-carotene

•

en:increased serum fgf23

•

en:increased serum lactate

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:increased triglycerides (less common)

•

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

•

en:increased urinary 2-methylbutyryl glycine

•

en:increased urinary 3-methylcrotonylglycine

•

en:increased urinary carnitine

•

en:increased pyruvate in serum and csf

•

en:increased urinary phospholipids

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

en:inappropriately normal to low-normal serum 1,25-dihydroxyvitamin d3

•

en:increased plasma homogentisic acid (hga)

•

en:hyperuricuria

•

en:hyperglycemia

•

en:iron deficiency

•

en:hypermagnesemia

•

en:hypermethioninemia, progressive

•

en:hyperprolinemia (5-10 times normal)

•

en:hypertriglyceridemia (rare)

•

en:increased c10:2-carnitine

•

en:increased plasma free cholesterol

•

en:increased ck-mb

•

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

•

en:increased csf and plasma ghb

•

en:increased hepatic parenchymal cell stainable iron

•

en:increased il18

•

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

•

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

•

en:increased urinary vanillylmandelic acid (vma)

•

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

•

en:lactate pyruvate ratio normal

•

en:plasma triglycerides increased

•

en:normal transferrin saturation

•

en:no increase of muscle lactate with ischemic exercise testing

•

en:oestradiol decreased

•

en:partial deficiency of factor xi(c)

•

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

•

en:plasma aldosterone normal

•

en:platelet aggregation decreased

•

en:normal serum erythropoietin (epo, 133170)

•

en:polyploid sperm heads

•

en:protein c decreased

•

en:prothrombin time low

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

en:serum calcitonin, increased

•

en:hyperbilirubinemia

•

en:normal serum phosphorus

•

en:normal serum cobalamin

•

en:leukotriene c4 synthetase deficiency

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

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

•

en:low or absent thyrotropin (tsh)

•

en:low serum ceruloplasmin

•

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

•

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

•

en:mild eosinophilia may occur

•

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

•

en:normal sedimentation rate

•

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

•

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

•

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

•

en:nonketotic hypoglycemia

•

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

•

en:normal leukocyte and platelet counts

•

en:normal parathyroid hormone (female)

•

en:hypercalciuria (in some patients)

•

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

•

en:holocarboxylase synthetase deficiency

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

en:decreased activity of tyrosine hydroxylase

•

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

•

en:decreased circulating cortisol level

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased cpt1 activity

•

en:decreased csf folate

•

en:decreased hepatic gaba transaminase activity

•

en:cystathioninuria (lab finding)

•

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

•

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

•

en:decreased mitochondrial complex iii activity in muscle

•

en:decreased nk cells (in some patients)

•

en:decreased or absent gch1 activity

•

en:decreased serum b12 levels

•

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

•

en:creatine kinase normal between episodes

•

en:decreased serum levels of maoa products

•

en:absent ch50 activity in complete c4 deficiency

•

en:serum complement decreased

•

en:2-oxoadipic aciduria

•

en:abnormal liver enzymes during illness

•

en:abnormal serum liver enzyme levels

•

en:abnormal urinary compounds

•

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

•

en:absent or abnormal thyroglobulin

•

en:chromosomal rearrangement

•

en:agammaglobulinemia

•

en:alkaline phosphatase decreased

•

en:aminoaciduria (in some patients)

•

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

•

en:antineutrophil cytoplasmic antibody

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

en:cerebrospinal fluid oligoclonal bands

•

en:decreased serum insulin-like growth factor-1 (igf1, 147440)

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:high sweat electrolyte

•

en:fibroblasts are small and rounded with prominent nucleoli

•

en:elevated urinary 3-methylglutarate

•

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

•

en:eosinophilia

•

en:ethylmalonic aciduria

•

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

•

en:fasting chylomicronemia

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:elevated plasma stigmasterol

•

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

•

en:gaucher disease, type 1

•

en:glutaric aciduria

•

en:hepatic ornithine transcarbamylase deficiency

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:high plasma citrulline (100-300 micromolar)

•

en:elevated total iron-binding capacity

•

en:elevated plasma citrulline (citrullinemia)

•

en:decreased serum trypsinogen

•

en:dyslipidemia

•

en:decreased t cells

•

en:decreased urinary excretion of uromodulin

•

en:decreased xanthine dehydrogenase activity

•

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

•

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

•

en:direct coombs test negative

•

en:elevated 2-ketoglutarate (urine)

•

en:elevated leukotriene e(4)

•

en:elevated alkaline phosphatase of bone origin

•

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

•

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

•

en:elevated csf glycine

•

en:elevated erythrocyte aicar (zmp)

•

en:elevated gamma-glutamyltransferase

•

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

•

en:serum chloride level decreased (finding)

•

en:chondroitin 6-sulfate excretion in urine

•

en:serum corticosterone increased

•

en:low apolipoprotein

•

en:indirect hyperbilirubinemia

•

en:intermittent ethylmalonic aciduria

•

en:interstitial or terminal deletion of 18q

•

en:lactic acidosis

•

en:leukocytosis

•

en:long-chain ketonuria

•

en:low to very low hdl cholesterol

•

en:increased urinary s-sulfocysteine

•

en:markedly reduced igg levels

•

en:methylglutaconic aciduria, mild

•

en:methylmalonic aciduria

•

en:microduplication of chromosome 5p13

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:molybdenum cofactor deficiency

•

en:increased urine vanillactic acid (vla)

•

en:increased urinary excretion of cystine

•

en:nephrotic syndrome

•

en:increased serum s-adenosylhomocysteine

•

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

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

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

•

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

•

en:increased serum lactate in acute stage

•

en:increased serum manganese

•

en:increased serum thymidine

•

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

•

en:increased total bilirubin may occur

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:increased urinary 2-butanone

•

en:increased urinary 2-ketoglutarate (variable)

•

en:increased urinary adenosine

•

en:increased urinary creatine

•

en:multiple autoantibodies

•

en:normal apoa-ii levels in homozygotes

•

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

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

en:saposin a deficiency (finding)

•

en:secondary decreases in complex i and iv activity

•

en:serum aldosterone elevated

•

en:serum cholesterol raised

•

en:serum iron normal

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

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

•

en:transcobalamin ii deficiency

•

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

•

en:upregulation of alpha-interferon-stimulated genes

•

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

•

en:serum cortisol elevated

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:reduced erythrocyte glucose/hexose transport

•

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

•

en:normal urinary cyclic amp response to pth administration

•

en:normal lysl hydroxylase activity

•

en:normal lysyl hydroxylase activity

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:normal serum and mucosal iga

•

en:normal serum phytanic and pristanic acid

•

en:normal to increased plasma glycine

•

en:no c8 antigen detected

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:orotic acid crystalluria

•

en:partial deficiency of factor xii(c)

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

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

•

en:positive urinary bratton-marshall test

•

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

•

en:premature separation of centromeric heterochromatin

•

en:increased ferritin

•

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

•

en:increased csf glycine

•

en:cytoplasmic lamellar concentric inclusions

•

en:abnormal oral glucose tolerance

•

en:abnormal urinary organic acids

•

en:aminoaciduria (1 patient)

•

en:antiphospholipid antibody

•

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

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

•

en:abnormal myelination in sural nerve biopsies

•

en:decreased beta-thromboglobulin

•

en:decreased c3 antigen

•

en:decreased circulating aldosterone level

•

en:decreased cortisol-binding globulin

•

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

•

en:decreased iga, igg, igm

•

en:abnormal nasal potential difference

•

en:abnormal liver enzymes (1 patient)

•

en:decreased levels of plasma vwf antigen

•

en:sialylation defects

•

en:increased 11-deoxycortisol

•

en:serum lactate may be increased during encephalopathic exacerbations

•

en:serum osmolality decreased

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:serum triglycerides increased

•

en:shortened metaphase

•

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

•

en:abnormal cartilage collagen on em

•

en:thrombocytopenia

•

en:thyroid dyshormonogenesis 4

•

en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine

•

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

•

en:3-methylglutaconic aciduria

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:abnormal bone marrow karyotype, t(8,21)

•

en:decreased intracellular fmr protein

•

en:variegated translocation mosaicism in cultured fibroblasts

•

en:decreased plasma glycine

•

en:hyperglutaminemia

•

en:fibroblasts show decreased mitochondrial complex v activity

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

en:foam cells in bone marrow and renal glomeruli

•

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

•

en:glycoamino aciduria

•

en:homozygous 122kb deletion 11p15-p14

•

en:hyperthreoninemia

•

en:factor viii deficiency

•

en:hypertriglyceridemia

•

en:hypertryptophanemia

•

en:hypocalcemia

•

en:hypocalcemia (64% of adults)

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:hypoglycosylated serum transferrin

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

en:hypermagnesiuria

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:dyskinetic ciliary motility

•

en:decreased serum ferritin

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:decreased scad activity

•

en:decreased serum vitamin a

•

en:deficiency of creatine phosphate in brain

•

en:decreased serum factor h (atypical hus)

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:elevated 7-dehydrocholesterol

•

en:elevated afp (endodermal sinus tumor)

•

en:elevated androstenedione

•

en:elevated calcitonin

•

en:elevated il1-beta

•

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

•

en:low plasma hdl

•

en:low rai (radioactive iodine) uptake

•

en:low fasting glucose (in some patients)

•

en:low alkaline phosphatase

•

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

•

en:low urinary cyclic amp response to pth administration

•

en:iodine depletion

•

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

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:increased urine porphyrins at times

•

en:increased serum ferritin

•

en:increased urinary 3-oh-butyric acid

•

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

•

en:increased uric acid level

•

en:increased serum osteocalcin

•

en:increased serum glutamine

•

en:increased long-chain acylcarnitine

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:increased il-6

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

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

•

en:increased di- and asialo-transferrin

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:methylmalonic aciduria, mild

•

en:poor mitogenic response to growth factors

•

en:mildly prolonged bleeding time 10-12 minutes

•

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

•

en:skewed x-inactivation in females

•

en:increased ammonia with exercise

•

en:serum transaminase increased

•

en:serum testosterone decreased

•

en:serum phosphate normal

•

en:serum ammonia increased

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:proteinuria (type ii, congenital)

•

en:prominent leukocytosis (30,000/ml)

•

en:positive urine dnph screening test

•

en:phosphaturia (in some)

•

en:mild elevation of transaminases

•

en:pentagastrin stimulation test

•

en:organic aciduria, mild (in some patients)

•

en:occasionally mild elevation of csf protein

•

en:no evidence of intrauterine infection in mother or newborn

•

en:no cartilage staining with toluidine blue

•

en:normal serum liver enzymes

•

en:normal serum bile acids

•

en:normal or increased serum creatine kinase

•

en:normal erythrocyte gs activity

•

en:normal ciliary structure and function

•

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

•

en:increased chromosomal breakage

•

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

•

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

•

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

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

en:decreased or absent dihydropteridine reductase activity

•

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

•

en:decreased long-chain fatty acid oxidation

•

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

•

en:decreased insulin receptor binding

•

en:decreased csf arginine

•

en:decreased beta-oxidation of pristanic acid

•

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

•

en:decreased acetyl-coa carboxylase activity

•

en:contiguous gene deletion syndrome

•

en:decreased plasma lpl levels (in some patients)

•

en:chronic hypercapnia

•

en:chromosome 11q23.3 deletion

•

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

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:anti-ds dna antibody

•

en:adenylosuccinase deficiency (finding)

•

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

•

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

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:3-methylglutaric aciduria (3-mga)

•

en:transaminitis

•

en:decreased plasma apolipoprotein b (apob, 107730)

•

en:decreased serum ceruloplasmin

•

en:inappropriately normal or increased plasma hepcidin

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

en:inappropriately increased urine osmolality

•

en:immotile or weakly motile cilia

•

en:iga antiendomysial antibodies (ema)

•

en:hypocalcemia (male)

•

en:hyperthreoninuria

•

en:hypercalciuria

•

en:homocystinemia

•

en:high plasma triglyceride levels

•

en:hawkinsinuria

•

en:folic acid deficiency

•

en:elevated serum transaminase levels

•

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

•

en:elevated serum alpha-fetoprotein

•

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

•

en:elevated plasma alloisoleucine

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:elevated alkaline phosphatase

•

en:duplication or deletion at 11p15.5

•

en:deletion of chromosome 18p11.2

•

en:defective bile acid metabolism

•

en:decrease plasma serine (fasting)

•

en:decreased von willebrand factor

•

en:decreased tetrasialotransferrin levels

•

en:smooth muscle antibodies positive

•

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

•

en:tyrosinemia (transient, resolves in infancy)

•

en:large spermatozoa

•

en:methemoglobin concentration 12 to 19%

•

en:median mean platelet volume (mpv) 18fl

•

en:mean platelet volume (mpv) 12.6fl

•

en:low to low-normal magnesium

•

en:low serum calcium

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low level of c4 and c2

•

en:low acth level

•

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

•

en:liver function tests normal

•

en:incresased urinary pyruvate

•

en:monomeric igm

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:increased urinary o-linked sialopeptides

•

en:increased urinary hga

•

en:increased urinary carnitine esters

•

en:increased urinary 7-biopterin (primapterin)

•

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

•

en:increased serum erythropoietin (epo, 133170)

•

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

•

en:increased serum and urinary 2-oxoglutarate

•

en:increased serum ammonia (group b)

•

en:increased plasma progastrin

•

en:mild-moderate prolonged bleeding time

•

en:myoglobinuria after exertion

•

en:increased disialotransferrin and asialotransferrin levels

•

en:severe thrombocytopenia (30-60 x 10(9)/l)

•

en:unresponsive to acth stimulation

•

en:vacuolated lymphocytes

•

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

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:translocation of chromosomes 9 and 13

•

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

•

en:transient hyperlipidemia

•

en:thrombocytosis (in some patients)

•

en:some fragmented or disrupted golgi

•

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

•

en:severely decreased antigen levels of vwf and factor viii

•

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

•

en:serum gastrin increased

•

en:reduced igg levels, particularly igg2 subclass

•

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

•

•

en:prolonged activated partial thromboplastin time (aptt)

•

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

•

en:plasma protein c deficiency

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:no dicarboxylic aciduria

•

en:normal to mildly increased mucopolysacchariduria

•

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

•

en:increased lactate in spinal fluid

•

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

•

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

•

en:axonemes show normal structure

•

en:decreased hepatic udp-glucuronyl-transferase activity

•

en:decreased factor xi

•

en:decreased csf glycine

•

en:decreased axonal flare response after intradermal histamine injection

•

en:decreased apoa-i and apoa-ii

•

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

•

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

•

en:cytogenetic deletion of chromosome 19q13

•

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

•

en:bilirubin may or may not be increased

•

en:antithrombin iii decreased

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

en:anomalies of cholesterol levels

•

en:androgens increased

•

en:alpha ketoadipic aciduria

•

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

•

•

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

•

en:abnormal liver enzymes, intermittent

•

en:abnormal eeg in 25% hospitalized patients

•

en:abacterial leukocyturia

•

en:increased cholesterol

•

en:variable hypoglycemia

•

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

•

en:creatine kinase levels may normalize with disease progression

•

en:high plasma asparagine

•

en:elevated urinary ornithine, lysine, arginine

•

en:inappropriately low urine osmolality

•

en:decreased plasma and urinary ornithine

•

en:hyposialylation of o-linked serum glycans

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:hyperinsulinemia

•

en:hyperglycinemia (1 patient)

•

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

•

en:hemizygous deletion at 7q11.23

•

en:galactosuria

•

en:folate-dependent fragile site at xq28

•

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

•

en:fasting ketosis

•

en:elevated testosterone

•

en:elevated serum parathyroid hormone (pth) level

•

en:elevated propionate

•

en:elevated 8-dehydrocholesterol

•

en:elevated 17-hydroxyprogesterone

•

en:electron microscopy of foam cells shows lamellar inclusions

•

en:distal xp22.3 segmental monosomy

•

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

•

en:decreased triiodothyronine level

•

en:decreased platelet derived growth factor

•

en:decreased plasma apolipoprotein c-ii

•

en:elevated inflammatory markers

•

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

•

en:elevated erythrocyte adenosine deaminase

•

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

•

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

•

en:high ebv viral load

•

en:dilated rough endoplasmic reticulum (rer)

•

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

•

en:dermatan and heparan sulfate excretion in urine

•

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

•

en:elevated plasma cholestanol

•

en:defective glcnac-pi synthesis

•

en:elevated plasma and urine succinylacetone

•

en:hematuria, gross and microscopic

•

en:elevated plasma follicle stimulating hormone (fsh)

•

en:elevated plasma insulin

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

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

•

en:fragmentation of the mitochondrial network

•

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

•

en:galactosylation defects

•

en:gamma-glutamylcysteine deficiency

•

en:gm2-ganglioside accumulation

•

en:hepatic gamma-cystathionase deficiency

•

en:decreased whole blood serotonin

•

en:defective (ca2+) mobilization in t cells

•

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

•

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

•

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

•

en:hypercholesterolemia (reported in 2 patients)

•

en:adrenocorticotropic hormone, increased

•

en:alkaline phosphatase normal

•

en:anti-factor viii positive

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:ceruloplasmin decreased

•

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

•

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

•

en:creatine phosphokinase increased

•

en:csf pleocytosis, particularly of lymphocytes

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

en:decreased activity of mitochondrial complex i

•

en:decreased csf hypocretin

•

en:decreased serum iron (in some patients)

•

en:decreased csf pyridoxal

•

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

•

en:decreased erythrocyte plasmalogen

•

en:decreased glycerol kinase activity

•

en:decreased gtp cyclohydrolase i activity (about 20% of normal)

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:decreased neopterin and biopterin in urine

•

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

•

en:decreased phk activity in liver

•

en:decreased renal calcium excretion

•

en:decreased serum 18-ohb

•

en:decreased serum acth

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:serum testosterone level normal

•

en:hypocholesterolemia

•

en:patient cells show increased chromosome breakage

•

en:normal activity of von willebrand factor-cleaving protease

•

en:normal cerebrospinal fluid

•

en:normal csf 5-hiaa

•

en:normal igg levels

•

en:normal male karyotype (46,xy)

•

en:normal or mildly reduced sphingomyelinase activity

•

en:normal plasma total homocysteine

•

en:normal serum folate levels

•

en:normal serum parathyroid hormone (pth)

•

en:no ketonuria

•

en:patient cells show abnormal mitochondrial morphology

•

en:phosphaturia may disappear after a long period of time

•

en:mitochondrial complex i deficiency in muscle

•

en:plasma aldosterone increased

•

en:platelet antibody positive

•

en:proper antibody response to protein vaccinations

•

en:reduced unsaturated serum cobalamin binding capacity

•

en:round, yellow-brown dha urine crystals

•

en:serum homocysteine normal

•

en:serum prolactin increased

•

en:thyroid hormone organification defect

•

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

•

en:tyrosine iodination defect

•

en:t cells may be increased or decreased

•

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

•

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

•

en:methioninuria

•

en:hyponatremic dehydration, rarely

•

en:increased serum deoxyuridine

•

en:immotile cilia

•

en:immunoglobulin antibodies present

•

en:impaired creatine uptake in fibroblasts

•

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

•

en:increased blood alanine

•

en:increased csf pyruvic acid

•

en:increased interferon-alpha signal

•

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

•

en:increased plasma pipecolic acid

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:increased serum citrulline (group b)

•

en:increased serum creatine kinase in acute stage

•

en:increased serum glycerol

•

en:markedly increased serum creatine kinase

•

en:increased serum lactate, particularly after exercise

•

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

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

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

•

en:increased urinary l-glycerate

•

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

•

en:increased urinary taurine

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

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

•

en:low-molecular-weight proteinuria

•

en:low free carnitine

•

en:low plasma free and total carnitine

•

en:absent axonal flare response to intradermal histamine injection

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6845940 • caches: c1=8 c2=1003 c3=1

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