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

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

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

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:urinary excretion of 2-ethyl-hexanedioic acid

•

en:hypernatriuria

•

en:dhea sulfotransferase below limit of detection

•

en:decreased plasminogen activity

•

en:decreased glycerol kinase activity

•

en:atrial abnormalities on electrocardiogram

•

en:type i, classic, decreased antithrombin iii levels

•

en:prolonged prothrombin and partial thromboplastin times

•

en:increased serum lactate in acute stage

•

en:increased serum thymidine

•

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

•

en:impaired o-glycosylation

•

en:hypoproteinemia (in 1 patient)

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:elevated total iron-binding capacity

•

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

•

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

•

en:decreased glutamine in bodily fluids

•

en:decreased fibroblast iduronate sulfatase

•

en:decreased activity of tyrosine hydroxylase

•

en:chronic hypercapnia

•

en:decreased activity of nadph oxidase

•

en:abnormal secretin test

•

en:aneuploidy of the x chromosome

•

en:decreased nasal nitric oxide

•

en:hyperoxalaemia

•

en:decreased triiodothyronine level

•

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

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

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

•

en:increased serum beta-carotene

•

en:renin decreased

•

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

•

•

en:elevated plasma desmosterol

•

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

•

en:electrolyte disturbances from intractable diarrhea

•

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

•

en:foam cells in bone marrow and renal glomeruli

•

en:hepatic lipase deficiency (disorder)

•

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

•

en:increased serum citrulline (group b)

•

en:increased ige level

•

en:hypoprebetalipoproteinemia

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:decreased complement factor d

•

en:decreased adiponectin

•

en:adenylosuccinase deficiency (finding)

•

en:absent or abnormal thyroglobulin

•

en:abnormal urinary compounds

•

en:normal total urinary coproporphyrin

•

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

•

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

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:hemoglobin decreased

•

en:thrombocytopenia

•

en:increased serum creatine kinase in patients with muscle involvement

•

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

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

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

•

en:excessive urinary 5-oxo-l-proline

•

en:decreased phk activity in liver

•

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

•

en:decreased c3 antigen

•

en:antineutrophil antibody positivity

•

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

•

en:hyperarginemia

•

en:no elevation of free fatty acids

•

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:decreased fibrinogen (in some patients)

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:excessive iodide trapping

•

en:elevated urinary pge(2) levels

•

en:decreased activity of the pyruvate dehydrogenase complex (highly variable, 1-70% of controls)

•

en:serum ammonia increased

•

en:serum acid phosphatase normal

•

en:hypocalcemia, transient

•

en:triglyceride decreased

•

en:5-alpha-reductase-2 enzyme deficiency

•

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

•

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

•

en:t cells may be increased or decreased

•

en:increased il6, episodic

•

en:increased urinary 2-oxoglutaric acid

•

en:low serum uric acid

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

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

•

en:serum mitochondrial autoantibodies

•

en:median mean platelet volume (mpv) 20fl

•

en:increased urinary 3-methylcrotonylglycine

•

en:increased serum bilirubin (in some patients)

•

en:increased plasma pipecolic acid

•

en:impaired creatine uptake in fibroblasts

•

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

•

en:hyperglycinemia (1 patient)

•

en:elevated sed rate

•

en:elevated plasma stigmasterol

•

en:decreased serum factor b (atypical hus)

•

en:plasmalogen deficiency

•

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

•

en:no evidence of intrauterine infection in mother or newborn

•

en:hepatic gamma-cystathionase deficiency

•

en:platelet aggregation decreased

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:prolonged partial thromboplastin time (ptt)

•

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

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:absence of hepatic udp-glucuronyl-transferase

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:normal igg levels

•

en:increased urinary adenosine

•

en:high serum guanosine levels

•

en:elevated plasma cholestanol

•

en:elevated hcg (choriocarcinoma)

•

en:elevated crp

•

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

•

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

•

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

•

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

•

en:ethylmalonic aciduria

•

en:hyperlactemia

•

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

•

en:no chromosome breakage

•

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

•

en:reduced erythrocyte gs activity

•

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

•

en:elevated urinary phosphoethanolamine

•

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

•

en:low plasma tryptophan (inflammatory type b)

•

en:normal or increased serum phosphate

•

en:orotic acid crystalluria

•

en:elevated pth (parathyroid hormone)

•

en:hyperlipoproteinemia type i

•

en:decreased serum complement factor h

•

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

•

en:mildly prolonged bleeding time 10-12 minutes

•

en:increased urine porphyrins at times

•

en:increased serum gamma-ggt (231950)

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:hyperkalemia

•

en:elevated serum protein

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:decreased urinary sulfate

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:decrease or absence of cathepsin d (ctsd) protein immunostaining

•

en:decreased serum iron (in some patients)

•

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

•

en:elevated cerebrospinal fluid (csf) protein

•

en:mildly elevated urinary mevalonic acid

•

en:severely decreased palmitate oxidation

•

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

•

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

•

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

•

en:normal exocrine pancreatic function

•

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

•

en:pms show deficient oxidation of debrisoquine

•

en:leukocytosis

•

en:increased plasma long-chain acylcarnitines

•

en:elevated fasting glucose

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:increased chromosomal breakage

•

en:fibroblasts attach poorly

•

en:lack of ciliary motility

•

en:elevated serum levels of 2-prime deoxyadenosine

•

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

•

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

•

•

en:eosinophilia

•

en:decreased hexokinase activity in red blood cells

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:decreased serum b12 levels

•

en:decreased plasma arginine

•

en:4-hydroxyphenyllactic aciduria

•

en:iodine depletion

•

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

•

en:hypertriglyceridemia

•

en:organic aciduria, mild (in some patients)

•

en:increased long-chain acylcarnitine

•

en:platelet count normal

•

en:serum creatine kinase may be normal or increased

•

en:normal urinary cyclic amp response to pth administration

•

en:low cholesterol esterification rates

•

en:low acth level

•

en:serum and csf lactate may be increased

•

en:dyskinetic ciliary motility

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

en:thyroid hormones increased

•

en:predominance of the d-stereoisomer

•

en:decreased tissue and serum alkaline phosphatase

•

en:loss of ciliary beat coordination

•

en:leukotriene c4 synthetase deficiency

•

en:liver enzymes abnormal

•

en:increased ferritin

•

en:low urinary orotic acid

•

en:low fasting glucose (in some patients)

•

en:low or normal serum calcium

•

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

•

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

•

en:intermittent increase of urinary ethylmalonic acid

•

en:mitochondria dna deletion

•

en:intracellular accumulation of unesterified cholesterol

•

en:increased serum uric acid

•

en:increased urinary vanillylmandelic acid (vma)

•

en:increased urinary sulfatides

•

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

•

en:increased urinary 3-oh-butyric acid

•

en:increased urinary 2-methylbutyryl glycine

•

en:increased serum vitamin b12

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased plasma vldl, ldl

•

en:increased plasma lactate

•

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

•

en:increased histidine in blood, urine, and csf

•

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

•

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

•

en:presence of cytochrome b(-245)

•

en:negative nitroblue tetrazolium (nbt) reduction test

•

en:phytanic acid increased

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:serum growth hormone increased

•

en:serum ferritin normal

•

en:saccharopine dehydrogenase deficiency

•

en:reduced ferrochelatase activity

•

en:protein c decreased

•

en:prominent leukocytosis (30,000/ml)

•

en:increased creatine kinase (ck)

•

en:polycythemia

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:plasma aldosterone normal

•

en:pipecolic acidemia

•

en:phosphate normal

•

en:neutral hyperaminoaciduria

•

en:parathyroid hormone level increased

•

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

•

en:orotic aciduria

•

en:oestradiol decreased

•

en:no cartilage staining with toluidine blue

•

en:normal to mildly increased serum creatine kinase

•

en:normal serum liver enzymes

•

en:normal serum complement levels

•

en:normal prolyl 4-hydroxylase activity

•

en:normal or mildly increased serum creatine kinase

•

en:normal iga levels

•

en:normal aldosterone

•

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

•

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

•

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

•

en:creatine phosphokinase serum increased

•

en:decreased or normal serum factor b

•

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

•

en:decreased mitochondrial complex v assembly

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

en:decreased copper, iron, zinc

•

en:decreased cerebrospinal fluid folic acid

•

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

•

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

•

en:decreased activity of galactocerebrosidase

•

en:decreased activities of multiple sulfatases

•

en:cd4+/cd8+ ratio is reversed

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:bilirubin conjugated increased

•

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

•

en:aminoaciduria, mild (in some patients)

•

en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

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

•

en:abnormal liver function test

•

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

•

en:aberrant gamma-interferon-mediated inflammation

•

en:4-hydroxyphenylacetic aciduria

•

en:3-methylglutaric aciduria (3-mga)

•

en:tenascin x deficiency (serum and fibroblasts)

•

en:decreased palmitate oxidation

•

en:decreased transferrin increased serum iron

•

en:increased circulating renin level

•

en:glucose-6-phosphate deficiency

•

en:increased biliverdin in bodily fluids

•

en:hypoglycosylated serum transferrin

•

en:hypoglycemia

•

en:hyperinsulinemia

•

en:high sweat sodium and chloride

•

en:high serum inosine levels

•

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

•

en:hereditary fructose intolerance

•

en:hereditary angioedema

•

en:hb h erythrocyte inclusions

•

en:glycoamino aciduria

•

en:glutaric acidemia type 1

•

en:generalized aminoaciduria

•

en:decreased udp-glcnac

•

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

•

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

•

en:elevated urinary delta-aminolevulinic acid

•

en:elevated serum transaminase levels

•

en:elevated serum acid phosphatase

•

en:elevated progesterone

•

en:elevated hepatic transaminases

•

en:elevated fasting triglycerides

•

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

•

en:elevated csf glycine

•

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

•

en:deficiency of fat-soluble vitamins

•

en:serum triglycerides increased

•

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

•

en:thymic hormone decreased

•

en:increased total bilirubin may occur

•

en:normal cerebrospinal fluid

•

en:normal activity of von willebrand factor-cleaving protease

•

en:methylmalonic aciduria

•

en:long-chain ketonuria

•

en:liver function tests normal

•

en:interstitial or terminal deletion of 18q

•

en:intermittent 3-methylglutaconic aciduria

•

en:increased urinary urate

•

en:increased urinary thymine

•

en:increased urinary l-glycerate

•

en:increased urinary dicarboxylic acid, transient

•

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

•

en:increased serum methionine

•

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

•

en:increased serum levels of free plasma thyroid hormones

•

en:increased serum bilirubin due to hemolysis

•

en:increased serum arylsulfatase a.

•

en:increased plasma renin activity

•

en:increased plasma homogentisic acid (hga)

•

en:increased plasma creatine

•

en:increased phytanic acid in body tissues and fluids

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:increased il-6

•

en:increased disialo- and asialotransferrin

•

en:increased csf and plasma ghb

•

en:increased bile acid intermediates (dhca and thca)

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:normal to slightly elevated plasma cholesterol

•

en:hypogammaglobulinemia (in some patients)

•

en:serum lactate is usually normal

•

en:very low leptin level

•

en:transaminitis

•

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

•

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

•

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

•

en:type 1 collagen overmodification

•

en:tryptophanuria

•

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

•

en:thyroid dyshormonogenesis 3

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

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

•

en:serum cholesterol raised

•

en:no chromosomal breakage

•

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

•

•

en:proper antibody response to protein vaccinations

•

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

•

en:positive urinary bratton-marshall test

•

en:platelet antibody positive

•

•

en:phytanic acid accumulation

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:phosphaturia may disappear after a long period of time

•

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

•

en:organic aciduria

•

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

•

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

•

en:hypocalcemia (male)

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:decreased csf ferritin despite normal serum ferritin levels

•

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

•

en:decreased agt activity

•

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

•

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

•

en:transient eosinophilia in first decade

•

en:cd4+/cd8+ ratio often reversed

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:antithrombin iii decreased

•

en:anti-ssb positive

•

en:anomalies of cholesterol levels

•

en:acute hyperammonemia

•

en:decreased levels of the e2 subunit protein

•

en:absence of peroxidase staining in neutrophils and monocytes

•

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

•

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

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

en:abnormal oral glucose tolerance

•

en:abnormal liver function tests (in some patients)

•

en:abnormal liver enzymes, intermittent

•

en:4-hydroxyphenylactic aciduria

•

en:3-methylglutaconic aciduria

•

en:urinary excretion of mucopolysaccharides

•

en:hyperprostaglandinuria

•

en:type iii collagen defect

•

en:decreased csf hypocretin

•

en:alanine aminotransferase increased

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:hyperphosphatemia, transient

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

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

•

en:hypercholesterolemia (10%)

•

en:hypercholesterolemia

•

en:hyperbilirubinemia

•

en:hepatic glycine cleavage defect

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:fluorescence of red blood cells by uv microscopy

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:factor viii deficiency

•

en:generalized amyloid deposition

•

en:elevated propionate

•

en:diminished lymphocyte response to phytohemaglutinin

•

en:decreased serum bun

•

en:decreased serum free thyroxine

•

en:decreased sulfite oxidase activity

•

en:decreased scad activity

•

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

•

en:decreased platelet derived growth factor

•

en:elevated afp (endodermal sinus tumor)

•

en:elevated circulating parathyroid hormone (pth) level

•

en:elevated levels of vitamin b12

•

en:elevated mchc

•

en:elevated plasma luteinizing hormone (lh)

•

en:methylenetetrahydrofolate reductase deficiency

•

en:methylsuccinic aciduria

•

en:microtubule disorganization in some cilia

•

en:mildly elevated hepatic enzymes

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

en:multi-tailed spermatozoa

•

en:normal plasma and tissue carnitine

•

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

•

en:myoglobinuria after exertion (in some patients)

•

en:normal lysosomal hydrolases

•

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

•

en:normal to slightly high alkaline phosphatase

•

en:normal serum cobalamin

•

en:no metabolic abnormalities

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:methionine adenosyltransferase deficiency

•

en:increased urinary sialylglycopeptides

•

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

•

en:intermediate level of cellular sensitivity to uv light

•

en:increased urinary dihydropyrimidines

•

en:oligospermia or azoospermia

•

en:increased urinary glutaric acid

•

en:increased urinary homovanillic acid (hva)

•

en:increased urinary magnesium

•

en:increased urinary sulfite

•

en:irregularly shaped sperm heads

•

en:low urinary cyclic amp response to pth administration

•

en:isovalericaciduria

•

en:long-chain dicarboxylic aciduria

•

en:low-to-normal csf lactate

•

en:low or absent igm levels

•

en:low or normal serum igm

•

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

•

en:occasionally mild elevation of csf protein

•

en:widespread interstitial fibrosis (visceral organs)

•

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

•

en:3-methylglutaric aciduria

•

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

•

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

•

en:variable hypoglycemia

•

en:vitamin b12 deficiency (in some patients)

•

en:vitamin d deficiency

•

en:laboratory abnormalities

•

en:abacterial leukocyturia

•

en:thyroid peroxidase defect

•

en:abnormal eeg in 25% hospitalized patients

•

en:abnormal isoelectric focusing of serum transferrin

•

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

•

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

•

en:absent axonal flare response to intradermal histamine injection

•

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

•

en:tsh decreased

•

en:tay-sachs disease

•

en:p5c levels increased in urine

•

en:rapid radioactive iodide (rai) discharge after thiocyanate or perchlorate

•

en:partial deficiency of factor xi (less common)

•

en:phosphorylase kinase normal in muscle

•

en:plasma catecholamines decreased

•

en:poor mitogenic response to growth factors

•

en:pseudohypertriglyceridemia in adult form

•

en:pyruvic acidemia

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

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

•

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

•

en:reticulocyte count increased

•

en:secondary decrease of plasma free carnitine

•

en:serum complement decreased

•

en:serum folate normal

•

en:serum thiamine is normal

•

en:smooth muscle antibodies positive

•

en:increased urinary creatine-to-creatinine ratio

•

en:decreased acetyl-coa carboxylase activity

•

en:increased urinary 2-hydroxybutyrate

•

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

•

en:decreased galactokinase activity

•

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

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

en:decreased neopterin and biopterin in csf

•

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

•

en:decreased phgdh activity (fibroblasts)

•

en:decreased serum trypsinogen

•

en:decreased cpt1 activity

•

en:decrease plasma serine (fasting)

•

en:defect in dna repair

•

en:defect in mitochondrial and peroxisomal fission

•

en:defect in oxidative phosphorylation

•

•

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

•

en:decreased csf homovanillic acid (hva)

•

en:decreased aminoacylase-1 activity

•

en:elevated acth

•

en:absent ch50 activity in complete c4 deficiency

•

en:absent igg2 subclass

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:abnormal liver enzymes, intermittent (1 patient)

•

en:abnormal liver enzymes during illness

•

en:abnormal liver function tests during pregnancy, resolves postpartum

•

en:absence of chylomicrons in lymph and plasma

•

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

•

en:decreased activity of complement factor d

•

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

•

en:agammaglobulinemia

•

en:alkaline phosphatase decreased

•

en:alpha-fetoprotein normal

•

en:antiribonuclear protein positive

•

en:ballooned neurons

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

en:elevated 8(9)-cholestenol

•

en:elevated alkaline phosphatase

•

en:increased tissue levels of free fatty acids

•

en:increased serum, urinary, and csf lysine

•

en:increased erythrocyte sedimentation rate, episodic

•

en:increased il1b increased soluble il2r

•

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

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:increased plasma progastrin

•

en:increased prv-1 (162860) mrna

•

en:increased serum alanine

•

en:increased csf and plasma gaba

•

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

•

en:increased serum and csf glycine

•

en:increased serum and urinary 2-oxoglutarate

•

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

•

en:increased serum manganese

•

en:increased serum s-adenosylmethionine

•

en:increased soluble il2 receptor

•

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

•

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

•

en:elevated ammonia

•

en:fibronectin decreased

•

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

•

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

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:elevated plasma campesterol

•

en:exercise-induced myoglobinuria

•

en:female carriers show markedly skewed x inactivation

•

•

en:increased 11-deoxycortisol

•

en:gamma-glutamylcysteine deficiency

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:hemoglobin f increased

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:hyperglutaminemia

•

en:hypocalcemia

•

en:immunoglobulin antibodies present

•

en:absent dystrophin on muscle biopsy

•

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

•

en:accumulation of cholesterol esters in various tissues

•

en:low 25-oh-vitamin d level

•

en:increased vitamin e (alpha-tocopherol) levels

•

•

en:lack of lysosomal inclusions in visceral organs

•

en:lactate high

•

en:lactic acidosis

•

en:little to absent aspartylglucosaminuria activity

•

en:low csf creatine

•

en:increased urinary organic acids (in some patients)

•

en:low density lipoprotein increased

•

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

•

en:low or low-normal serum t4

•

en:low serum levels of ketone bodies

•

en:metachromasia of white blood cells and fibroblasts

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:increased urinary oxylate

•

en:increased uric acid with exercise

•

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

•

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

•

en:increased plasma free cholesterol

•

en:increased plasma proglucagon

•

en:increased platelet aggregation with ristocetin

•

en:increased serum acyl carnitines

•

en:increased serum alpha-mannosidase

•

en:increased serum c26-bile-acid intermediates

•

en:increased serum creatine kinase (less common)

•

en:increased tissue levels of triglycerides

•

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

•

en:increased serum lactate

•

en:increased serum lactate (patient a)

•

en:increased serum parathyroid hormone (pth)

•

en:increased serum serotonin in 25%

•

en:increased susceptibility to ebv infection

•

en:increased thyroid-stimulating hormone (tsh)

•

en:mild to moderate hyperammonemia

•

en:neutrophilia, both basal and during infections

•

en:increased iga level

•

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

•

en:secondary decreases in complex i and iv activity

•

en:serum cholesterol low or normal

•

en:serum pristanic acid increased

•

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

•

en:some cilia show abnormal beating patterns or immotility

•

en:some fragmented or disrupted golgi

•

en:t1 transport protein (glucose-6-phosphate translocase) defect

•

en:rheumatoid factor negative

•

en:tyrosine iodination defect

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:urine uric acid decreased

•

en:variable respiratory chain enzyme deficiency

•

en:xanthine nephrolithiasis

•

en:acylglycinuria

•

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

•

en:reticulocytosis

•

en:normal lactate (hcs)

•

en:pancreatic trypsinogen deficiency

•

en:normal male karyotype (46,xy)

•

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

•

en:normal plasma total homocysteine

•

en:normal serum folate levels

•

en:normal serum phytanic and pristanic acid

•

en:occasional hypomagnesemia

•

en:parathyroid hormone normal

•

en:reduced serum uric acid

•

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

•

en:persistent ebv viremia

•

en:plasma aldosterone increased

•

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

•

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

•

en:postprandial hyperglycemia (early in disease course)

•

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

•

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

•

en:serum creatine kinase may be normal

•

en:increased erythropoietin

•

en:decreased peroxisomal fatty acid beta-oxidation

•

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

•

en:decreased methylmalonyl-coa mutase activity

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

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

•

en:decreased or absent serum citrulline

•

en:decreased or absent udp-glucuronyl-transferase activity

•

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

•

en:decreased iga, igg, igm

•

en:decreased serum 18-ohb

•

en:decreased switched memory b cells

•

en:decreased testosterone level

•

en:decreased whole blood serotonin

•

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

•

en:deficiency of serum properdin p factor

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:echocardiogram abnormal

•

en:chondroitin 6-sulfate excretion in urine

•

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

•

en:increased csf taurine

•

en:aminoaciduria (1 patient)

•

en:axonemes show normal structure

•

en:borderline elevated low-density lipoprotein

•

en:cerebrospinal fluid lymphocytosis

•

en:chronic hypoxemia

•

en:decreased csf glycine

•

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

•

en:decreased activity of dihydrofolate reductase

•

en:decreased activity of mitochondrial complex i

•

en:decreased activity of mitochondrial respiratory chain complex i

•

en:decreased activity of pyruvate dehydrogenase complex

•

en:decreased activity of triosephosphate isomerase

•

en:decreased apoa-i and apoa-ii

•

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

•

en:cystathionine beta-synthase deficiency disease

•

en:elevated 17-hydroxyprogesterone

•

en:hyperuricuria

•

en:hyperchloremia (mean 111 mm)

•

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

•

en:hypergammaglobulinemia

•

en:hyperglycinemia

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

en:hypertriglyceridemia (rare)

•

en:hypomethioninemia

•

en:high sweat electrolyte

•

en:hypophosphatemia (less common)

•

en:increased 18-oxocortisol

•

en:increased ammonia with exercise

•

en:increased c10:2-carnitine

•

en:increased csf protein during acute illness

•

en:elevated 3-hydroxypropionic acid

•

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

•

en:high urinary orotic acid

•

en:immotile or weakly motile cilia

•

en:high plasma citrulline (100-300 micromolar)

•

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

•

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

•

en:elevated inflammatory markers

•

en:elevated resting serum lactate, increased with exercise

•

en:elevated sepiapterin in csf

•

en:elevated gamma-glutamyltransferase (ggt)

•

en:elevated urinary 3-methylglutaconate

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:fasting ketosis

•

•

en:hepatic ornithine transcarbamylase deficiency

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

en:hematuria, macroscopic and microscopic

•

en:glomerular filtration rate decreased

•

en:gaucher disease, type 1

•

en:increased urinary 3-oh-propionic acid

•

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

•

en:increased serum total cholesterol

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:increased serum prostaglandin e2

•

en:increased serum beta-hexosaminidase

•

en:increased serum ammonia (group b)

•

en:increased plasma proinsulin

•

en:increased plasma phospholipids

•

en:increased plasma branched-chain fatty acids

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:increased csf threonine

•

en:hyperprolinemia type 1

•

en:increased csf lactate

•

en:incomplete n-glycosylation of cellular proteins

•

en:inappropriately low urine osmolality

•

en:hyposialylation of o-linked serum glycans

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:hypocalcemia (64% of adults)

•

en:hypoalbuminemia

•

en:hyperornithinemia

•

en:hypercholesterolemia (reported in 2 patients)

•

en:hypercholesterolemia (disorder)

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

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

•

en:hyperammonemia, episodic

•

en:hyperalphalipoproteinemia

•

en:increased urinary cortisol/cortisone ratio

•

en:normal or increased serum phytanic acid

•

en:increased urinary dopamine

•

en:normal or mildly reduced serum cobalamin

•

en:serum prolactin decreased

•

en:homocitrullinuria

•

en:serum lactate may be increased during encephalopathic exacerbations

•

en:serum calcitonin, increased

•

en:serum alkaline phosphatase normal or mildly increased

•

en:resistance to 1,25-dihydroxyvitamin d3

•

en:reduced erythrocyte adenosine deaminase activity

•

en:raised tsh level

•

en:polyploid sperm heads

•

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

•

en:partial deficiency of factor xi(c)

•

en:normal red cell counts

•

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

•

en:normal arterial oxygen saturation

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:normal 46,xy karyotype

•

en:neutropenia (in 1 patient)

•

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

•

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

•

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

•

en:methylmalonic acidemia

•

en:marked elevation of erythrocyte sedimentation rate

•

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

•

en:low plasma triglyceride level

•

en:low or absent prolactin (pl)

•

en:low maximal oxygen uptake on exercise testing

•

en:lactate pyruvate ratio normal

•

en:increased urinary prostaglandin e2

•

en:homocystinuria

•

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

•

en:hla-dqw6 association (dqb1*0602)

•

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

•

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

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased leptin

•

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

•

en:decreased hepatic gaba transaminase activity

•

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

•

en:decreased beta-oxidation of pristanic acid

•

en:decreased activity of thymidine phosphorylase

•

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

•

en:decreased activity of mitochondrial respiratory complexes

•

en:creatine decreased

•

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

•

en:chromosomal rearrangement

•

en:decreased or absent histidase activity

•

en:cell studies show increased dna breakage

•

en:b lymphocytopenia

•

en:bile contains cholesterol crystals

•

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

•

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

•

en:accumulation of guanidinoacetate in brain

•

en:absence of outer dynein arms

•

en:abnormal transferrin isoelectric focusing (ief)

•

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

•

en:abnormal karyotype in single reported female patient 46, xx,r(18)(p14q23)

•

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

•

en:abnormal dystrophin on muscle biopsy

•

en:shortened telomeres (classic feature, nola3 patient)

•

en:decreased or absent dihydropteridine reductase activity

•

en:decreased phytanic acid oxidase activity

•

en:heteroplasmic partial duplication of mtdna

•

en:elevated gastrin concentration

•

en:hematuria, gross and microscopic

•

en:granular osmiophilic deposits (grod) in cells

•

en:gm2-ganglioside accumulation

•

en:glucosidase i deficiency in liver and fibroblasts

•

en:galactosuria

•

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

•

en:fasting chylomicronemia

•

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

•

en:elevated urinary 3-methylglutarate

•

en:elevated plasma estrogen

•

en:elevated plasma citrulline (citrullinemia)

•

en:elevated liver enzymes

•

en:elevated leukotriene e(4)

•

en:elevated erythrocyte aicar (zmp)

•

en:decreased secretion of igf1 in response to gh administration

•

en:elevated alkaline phosphatase of bone origin

•

en:elevated 2-ketoglutarate (urine)

•

en:elevated 1,25(oh)2 d3

•

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

•

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

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

en:deficient fibroblast aicar-tf activity

•

en:decreased t cells

•

en:decreased tissue total and free carnitine

•

en:decreased serum haptoglobin (in some patients)

•

en:decreased serum factor i (atypical hus)

•

en:decreased serum c3 (atypical hus)

•

en:decreased serum and muscle coenzyme q

•

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

•

en:hydroxyprolinuria

•

en:transferase deficiency galactosemia

•

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

•

en:normal plasma phytanic acid

•

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

•

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

•

•

en:myoglobinuria with extreme exertion

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:median mean platelet volume 13fl

•

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

•

en:low serum igg and iga

•

en:low or absent luteinizing hormone (lh)

•

en:low-to-normal platelet count

•

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

•

•

en:normal serum lipoprotein levels

•

en:iron overload (in some patients)

•

en:intermittent severe hypoglycemia (in some patients)

•

en:increased urine oligosaccharides

•

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

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:increased urinary and serum glycine

•

en:increased serum triglycerides (in some patients)

•

en:increased serum pyruvate

•

en:increased serum lysine (group b)

•

en:increased serum growth hormone levels

•

en:increased serum fgf23

•

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

•

en:increased serum and urinary lactate

•

en:normal serum and mucosal iga

•

en:no evidence of common prenatal infections

•

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

•

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

•

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

•

en:undetectable plasma dbh activity

•

en:transferrin saturation increased

•

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

•

en:shortened telomeres (in 1 of 2 patients)

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

en:serum thyroxine may be decreased or normal

•

en:serum testosterone level normal

•

en:serum prolactin increased

•

en:serum iron normal

•

en:serum aldosterone elevated

•

en:saposin a deficiency (finding)

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:no evidence of perinatal infection

•

en:raised c-reactive protein

•

en:protein total decreased

•

•

en:primary immunoglobulin-related amyloidosis (al)

•

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

•

en:positive antinuclear antibody test

•

en:polymorphonuclear leukocytosis, episodic

•

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

•

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

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

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

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

en:no lactic acidosis

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:low-molecular-weight proteinuria

•

en:increased fractional excretion of uric acid

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:decreased plasma and urinary ornithine

•

en:decreased or normal serum c3

•

en:decreased natural killer cells

•

en:decreased methionine synthase activity

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:decreased levels of plasma factor viii

•

en:decreased fibroblast alpha-mannosidase

•

en:decreased csf serine

•

en:decreased b cells

•

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

•

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

•

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

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

en:decreased urinary calcium and phosphate excretion

•

en:hyposthenuria (inability to concentrate urine normally)

•

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

•

en:bile shows increased cholesterol/phospholipid ratio

•

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

•

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

•

en:aminoaciduria, intermittent

•

en:aldosterone level increased above normal

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

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

•

en:abnormal columnization of chondrocytes

•

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

•

en:urinary excretion of sialylated oligosaccharides

•

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

•

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

•

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

•

en:defective t-cell proliferative responses (in some patients)

•

en:exercise-induced myoglobinuria in adults

•

en:defect in n- and o-glycosylation

•

en:hyponatremia in infancy

•

en:hypocitraturia

•

en:hyperthreoninuria

•

en:hypermethioninemia, progressive

•

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

•

en:homocysteinemia

•

en:high ornithine

•

en:hepatic argininosuccinase deficiency

•

en:glycogen storage disease type vi

•

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

•

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

•

en:ferritin decreased

•

en:holocarboxylase synthetase deficiency

•

en:elevated urine ceramide levels

•

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

•

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

•

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

•

en:elevated 7-dehydrocholesterol

•

en:elevated blood spot hydroxybutyryl carnitine

•

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

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:elevated pregnenolone

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:elevated serum bile acids

•

en:elevated serum levels of adenosine

•

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

•

en:elevated serum transaminases during infections

•

en:normal axonal flare response after intradermal histamine injection

•

en:low to low-normal magnesium

•

en:mildly elevated hdl in heterozygotes

•

en:mild-moderate prolonged bleeding time

•

en:microduplication of chromosome 5p13

•

en:microdeletion 22q11.2

•

en:march myoglobinuria

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:low serum alpha-fetoprotein (recessive)

•

en:low plasma methionine

•

en:low or normal serum erythropoietin

•

en:ketoacidosis

•

en:iodide organification defect

•

en:increased urine vanillactic acid (vla)

•

en:normal free urinary cortisol

•

en:normal collagen type i studies

•

en:undetectable serum l-transferrin (homozygous patient)

•

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

•

en:serum triglycerides normal

•

en:variable hyperlipidemia

•

en:urine odor, maple syrup

•

en:transcobalamin ii deficiency

•

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

•

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

•

en:severely decreased antigen levels of vwf and factor viii

•

en:serum ferritin hyperglycosylation

•

en:normal lysyl hydroxylase activity

•

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

•

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

•

en:pyruvate-induced insulin secretion

•

en:no mucopolysacchariduria

•

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

•

en:normal serum transferrin profiles

•

en:normal phytanic acid

•

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

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6880856 • caches: c1=8 c2=1003 c3=1

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