Diko : en:decreased activity of dihydrofolate reductase

en:decreased activity of dihydrofolate reductase

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C3279225

Associations d'idées

[F]

›

1000

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

•

en:increased urinary 3-oh-butyric acid

•

en:no evidence of perinatal infection

•

en:decreased csf hypocretin

•

en:decreased or absent apolipoprotein a-i

•

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

•

en:deficiency of creatine phosphate in brain

•

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

•

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

•

en:karyotype analysis normal finding

•

en:normal dermal hydroxylysine content

•

en:platelet aggregation decreased

•

en:serum calcium normal

•

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

•

en:decreased mitochondrial complex v assembly

•

en:decreased telomere length in lymphocytes

•

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

•

en:abnormal nuclear morphology

•

en:hyperammonemia

•

en:immediate (type i) skin test reactivity

•

en:reduced ige levels

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:absent dystrophin on muscle biopsy

•

en:bile shows increased cholesterol/phospholipid ratio

•

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

•

en:decreased hexokinase activity in red blood cells

•

en:increased urinary 2-butanone

•

en:protein total decreased

•

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

•

en:decreased or normal serum c3

•

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

•

en:elevated ferritin l subunit

•

en:normal plasma renin

•

en:platelet function test normal

•

en:translocation between 18q21 and 14q32

•

en:parathyroid hormone level increased

•

en:decreased phytanic acid oxidase activity

•

en:elevated total bilirubin

•

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

•

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

•

en:hyperoxaluria

•

en:low or low-normal serum t4

•

en:persistent ebv viremia

•

en:disorganized growth plate cartilage

•

en:decreased scad activity

•

en:glyoxalase deficiency

•

en:elevated plasma luteinizing hormone (lh)

•

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

•

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

•

en:decreased circulating aldosterone level

•

en:blood glucose normal

•

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

•

en:homocystinuria (in some patients)

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:increased urinary sulfite

•

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

•

en:indirect bilirubin increased

•

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

•

en:heteroplasmic partial duplication of mtdna

•

en:decreased nk cells (in some patients)

•

en:unresponsive to acth stimulation

•

en:serum testosterone decreased

•

en:normal prolyl 4-hydroxylase activity

•

en:neonatal hypocalcemia

•

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

•

en:increased csf lactate during acute episodes

•

en:lactate dehydrogenase increased

•

en:increased urinary acetoacetic acid

•

en:increased soluble il2 receptor

•

en:increased plasma proglucagon

•

en:increased il-6

•

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

•

en:folate-dependent fragile site at xq28

•

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

•

en:decreased plasma and urinary ornithine

•

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

•

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

•

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

•

en:reduced ferrochelatase activity

•

en:elevated urine unsulfated chondroitin sulfate

•

en:undetectable urinary hypoxanthine

•

en:hypercalcemia

•

en:blood pyruvic acid increased

•

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

•

en:positive antinuclear antibody test

•

en:lactic acidemia

•

en:isochromosome often missing in lymphocyte

•

en:paraproteinemia

•

en:thyroid hormone organification defect

•

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

•

en:elevated serum transaminase levels

•

en:deficiency of laminin in basement membranes

•

en:decreased serum c3 (atypical hus)

•

en:decreased serum b12 levels

•

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

•

en:long-chain dicarboxylic aciduria

•

en:decreased fibroblast beta-hexosaminidase

•

en:decreased renal calcium excretion

•

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

•

en:green serum

•

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

•

en:hypoglycemia, fasting

•

en:increased triglycerides (less common)

•

en:increased urinary dihydropyrimidines

•

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

•

en:p5c levels increased in urine

•

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

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:some cilia show central complex and radial spoke defects

•

en:increased urinary collagen type i n-telopeptide excretion (ntx) during hyperplastic callus formation

•

en:normal collagen type i studies

•

en:increased plasma vldl, ldl

•

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

•

en:elevated liver enzymes

•

en:electrocardiogram abnormal

•

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

•

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

•

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

•

en:electrolyte disturbances from intractable diarrhea

•

en:elevated pth (parathyroid hormone)

•

en:fasting hyperinsulinemia

•

en:hepatic argininosuccinase deficiency

•

en:t-lymphocytopenia

•

en:alanine aminotransferase increased

•

en:aminoaciduria, intermittent

•

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

•

en:elevated serum acid phosphatase

•

en:hypogammaglobulinemia, profound

•

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

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en:methemoglobin concentration 12 to 19%

•

en:partial deficiency of factor xii(c)

•

en:round, yellow-brown dha urine crystals

•

en:serum bilirubin increased

•

en:elevated il6

•

en:defect in double-stranded dna repair

•

en:increased serum osteocalcin

•

en:high urinary copper

•

en:elevated plasma insulin

•

en:4-hydroxyphenylacetic aciduria

•

en:defective glcnac-pi synthesis

•

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

•

en:cystathioninemia

•

en:absent tyrosinase activity

•

en:increased urinary 2-methylbutyryl glycine

•

en:increased urinary, plasma, and csf dihydrouracil

•

en:abnormal myelination in sural nerve biopsies

•

en:lower total cholesterol

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:partial deficiency of factor xiii (less common)

•

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

•

en:lack of lysosomal inclusions in visceral organs

•

en:increased csf pyruvic acid

•

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

•

en:chronic hypoxemia

•

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

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

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

•

en:normal to elevated total plasma carnitine

•

en:microscopic hematuria

•

en:monoclonal gammopathy

•

en:normal liver histology

•

en:normal or increased serum creatine kinase

•

en:normal sweat chloride (3 of 3 patients)

•

en:prolonged prothrombin and partial thromboplastin times

•

en:no ketosis

•

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

•

en:pipecolic acidemia

•

en:platelet count normal

•

en:presence of pc mrna

•

en:low urinary orotic acid

•

en:markedly reduced iga levels

•

en:low or absent adrenocorticotropic hormone (acth) in some patients

•

en:low total serum protein

•

en:low serum magnesium

•

en:low serum cortisol

•

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

•

en:low or normal serum calcium

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:low leukocyte alkaline phosphatase activity

•

en:low-to-normal csf lactate

•

en:intermittent increase of urinary ethylmalonic acid

•

en:increased urinary sulfatides

•

en:increased urinary sialylglycopeptides

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:increased serum vitamin b12

•

en:increased serum uric acid

•

en:increased serum ratio of corticosterone to 18-hydroxycorticosterone (18-ohb)

•

en:propionic acidemia

•

en:serum lactate may be increased during encephalopathic exacerbations

•

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

•

en:abnormal eeg in 25% hospitalized patients

•

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

•

en:decreased activity of 2-oxoacid dehydrogenases

•

en:cutaneous anergy

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

en:antineutrophil antibody positivity

•

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

•

en:aminoaciduria (less common)

•

en:alpha ketoadipic aciduria

•

en:absence of cpt ii protein

•

en:absence of cd59 expression on red cells

•

en:abnormal transaminases (1 patient)

•

en:abnormal liver function tests (in some patients)

•

en:abnormal isoelectric focusing of serum transferrin

•

en:abnormal cartilage collagen on em

•

en:reticulocyte count increased

•

en:3-methylglutaconic aciduria

•

en:very low igm

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

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

•

en:tyrosinemia (transient, resolves in infancy)

•

en:type i, classic, decreased antithrombin iii levels

•

en:triglyceride decreased

•

en:thrombocytopenia

•

en:serum transaminase increased

•

en:serum thiamine is normal

•

en:increased serum creatine kinase, mild

•

en:serum iron low (finding)

•

en:serum cortisol elevated

•

en:rheumatoid factor positive (finding)

•

en:increased serum levels of free plasma thyroid hormones

•

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

•

en:increased serum 1,25-dihydroxyvitamin d3

•

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

•

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

•

en:decreased serum bun

•

en:decreased serum acth

•

en:decreased plasminogen activity

•

en:decreased plasma triglycerides

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:decreased or absent udp-glucuronyl-transferase activity

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

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

•

en:decreased fibroblast alpha-mannosidase

•

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

•

en:decreased adenosylcobalamin

•

en:decreased activity of thiopurine s-methyltransferase

•

en:decreased acetyl-coa carboxylase activity

•

en:decreased whole blood serotonin

•

en:cytogenetic deletion of chromosome 17p13.3

•

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

•

en:antithrombin iii deficiency

•

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

•

en:anti-ds dna antibody

•

en:acute-phase reactants during fever

•

en:absent platelet agglutination in presence of ristocetin

•

en:absent ch50 activity in complete c4 deficiency

•

en:abnormal transferrin isoelectric focusing (ief)

•

en:abnormal spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and brainstem

•

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

•

en:aberrant gamma-interferon-mediated inflammation

•

en:2-oxoadipic aciduria

•

en:'compensated hypothyroidism' with increased tsh and normal t4

•

en:decreased serum thyroxine (t4)

•

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

•

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

•

en:holocarboxylase synthetase deficiency

•

en:increased igg level

•

en:increased fractional excretion of uric acid

•

en:increased erythropoietin

•

en:decreased beta-oxidation of pristanic acid

•

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

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

en:increased 11-deoxycorticosterone

•

en:hypokalemia during attacks

•

en:hypocitraturia

•

en:hyperphosphatemia, transient

•

en:hyperoxalaemia

•

en:hypernatriuria

•

en:hyperlipoproteinemia type iib

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:high serum guanosine levels

•

en:dhea sulfotransferase below limit of detection

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:hereditary xanthinuria

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

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

•

en:eosinophilia, mild

•

en:elevated urine ceramide levels

•

en:elevated urinary ornithine, lysine, arginine

•

en:elevated serum transferrin saturation

•

en:elevated serum iron

•

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

•

en:elevated erythrocyte adenosine deaminase activity

•

en:elevated erythrocyte adenosine deaminase

•

en:elevated circulating parathyroid hormone (pth) level

•

en:elevated 3-hydroxypropionic acid

•

en:decreased activity of phosphoglycerate kinase 1

•

en:decreased plasma zinc levels

•

en:decreased c3 activity

•

en:mildly elevated urinary mevalonic acid

•

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

•

en:normal lysyl hydroxylase activity

•

en:normal eosinophil peroxidase activity

•

en:normal activity of von willebrand factor-cleaving protease

•

en:nephrotic syndrome

•

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

•

en:myelin basic protein measurement, spinal fluid

•

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

•

en:multiple tissue biopsies show lysosomal storage disease

•

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

•

en:molybdenum cofactor deficiency

•

en:mild to moderate hyperammonemia

•

en:mild elevation of triglycerides

•

en:mildly elevated hdl in heterozygotes

•

en:normal serum phytanic and pristanic acid

•

en:mildly elevated creatine phosphokinase

•

en:mildly elevated acth

•

en:methylmalonyl-coenzyme a mutase deficiency

•

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

•

en:low to normal serum calcium

•

en:low serum levels of ketone bodies

•

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

•

en:low ldl cholesterol

•

en:long-chain ketonuria

•

en:liver transaminases normal to slightly increased

•

en:little to absent aspartylglucosaminuria activity

•

en:iodide organification defect

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:increased urinary succinic acid

•

en:normal serum lipoprotein levels

•

en:normal to increased plasma glycine

•

en:increased urinary l-glycerate

•

en:serum thyroxine may be decreased or normal

•

en:very low density lipoprotein increased

•

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

•

en:vacuolated lymphocytes

•

en:urine uric acid decreased

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

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

•

en:tyrosinemia

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:tryptophanuria

•

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

•

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

•

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

•

en:shortened telomeres (1 patient)

•

en:serum transferrin glycosylation is normal

•

en:serum calcium elevated

•

en:normal to mildly increased mucopolysacchariduria

•

en:reduced platelet aggregation response to collagen and thrombin

•

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

•

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

•

en:pyruvate-induced insulin secretion

•

en:prolonged prothrombin time (pt)

•

en:premature separation of centromeric heterochromatin

•

en:pms show deficient oxidation of debrisoquine

•

en:plasma aldosterone increased

•

en:phytanic acid accumulation

•

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

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:no hyperuricemia

•

en:normal urinary cyclic amp response to pth administration

•

en:normal to slightly elevated plasma cholesterol

•

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

•

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

•

en:increased urinary excretion of l-xylulose

•

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

•

en:elevated serum protein

•

en:elevated serum parathyroid hormone (pth)

•

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

•

en:elevated progesterone

•

en:elevated plasma stigmasterol

•

en:elevated leukotriene e(4)

•

en:elevated ast and ldh, especially infantile-onset

•

en:elevated 3-methylcitric acid

•

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:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:deficiency or absence of p67-phox protein (type ii)

•

en:decreased von willebrand factor

•

en:fumarase deficiency

•

en:decreased tissue total and free carnitine

•

en:decreased serum levels of maoa products

•

en:decreased serum alpha-2 macroglobulin levels

•

en:decreased plasma gonadotrophin

•

en:decreased plasma apolipoprotein b (apob, 107730)

•

en:decreased or normal plasma insulin

•

en:decreased or absent ciliary motility

•

en:decreased methylcobalamin (mecbl)

•

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

•

en:decreased insulin receptor binding

•

en:decreased hdl cholesterol

•

en:decreased fbp1 enzyme activity

•

en:increased urinary excretion of cystine

•

en:decreased cpt1 activity

•

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

•

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

•

en:generalized aminoaciduria

•

en:impaired mitochondrial translation

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:increased urinary adenosine

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:increased serum ige

•

en:increased serum and urinary 2-oxoglutarate

•

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

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased plasma pipecolic acid

•

en:increased lactate in spinal fluid

•

en:increased il1b increased soluble il2r

•

en:increased gamma-interferon

•

en:increased disialotransferrin and asialotransferrin levels

•

en:increased creatine kinase (ck)

•

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

•

en:increased serum lipoproteins

•

en:immunoglobulin antibodies present

•

en:hyperglutaminemia

•

en:igg, decreased

•

en:hepatic lipase deficiency (disorder)

•

en:hereditary fructose intolerance

•

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

•

en:hypercalciuria (in childhood)

•

en:hemizygous deletion at 7q11.23

•

en:hypertryptophanemia

•

en:hypocalciuria

•

en:hypofibrinogenemia

•

en:hypokalemia during periodic paralysis (most patients)

•

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

•

en:hypoalphalipoproteinemia

•

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

•

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

•

en:methylmalonic acidemia

•

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

•

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

•

en:normal isoelectric focusing of serum transferrin

•

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

•

en:normal aldosterone

•

en:normal leukocyte and platelet counts

•

en:normal serum erythropoietin (epo, 133170)

•

en:low to normal plasma methionine

•

en:no hematuria

•

en:normal serum liver enzymes

•

en:lactate pyruvate ratio normal

•

en:low or undetectable insulin

•

en:low or normal serum igm

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

en:low or absent igm levels

•

en:low growth hormone levels

•

en:low absolute lymphocyte count

•

en:irregularly shaped sperm heads

•

en:iron low

•

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

•

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

•

en:increased urinary hypoxanthine

•

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

•

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

•

en:pcs involves most of all chromosomes of a metaphase

•

en:increased urinary creatine-to-creatinine ratio

•

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

•

en:serum osmolality decreased

•

en:pentagastrin stimulation test

•

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

•

en:increased serum lactate hydrogenase

•

en:bicarbonaturia

•

en:antiphospholipid antibody

•

en:anti-factor viii positive

•

en:acth normal

•

en:absent axonal flare response to intradermal histamine injection

•

en:absent anti-insulin receptor antibodies

•

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

•

en:abnormal serum transferrin pattern by isoelectric focusing (hyposialylation)

•

en:abnormal liver function tests (sgot, sgpt)

•

en:abnormal liver enzymes (1 patient)

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:3-methylglutaric aciduria

•

en:widespread interstitial fibrosis (visceral organs)

•

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

•

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

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:serum ferritin normal

•

en:serum chloride level decreased (finding)

•

en:serum acid phosphatase normal

•

en:sce normal in heterozygotes

•

en:routine liver function tests normal

•

en:raised tsh level

•

en:protein urine absent

•

en:protein c decreased

•

en:prominent leukocytosis (30,000/ml)

•

en:prolonged bleeding time

•

en:presence of vacuoles on muscle biopsy

•

en:presence of cytochrome b(-245)

•

en:plasmalogen deficiency

•

en:increased serum s-adenosylmethionine

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:increased serum c26-bile-acid intermediates

•

en:decreased cortisol-binding globulin

•

en:diminished lymphocyte response to phytohemaglutinin

•

en:dilated rough endoplasmic reticulum (rer)

•

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

•

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

•

en:defect in n- and o-glycosylation

•

en:defective (ca2+) mobilization in t cells

•

en:decreased serum haptoglobin

•

en:decreased platelet derived growth factor

•

en:decreased plasma total and free carnitine

•

en:decreased nasal nitric oxide

•

en:decreased levels of cpt2 protein

•

en:decreased csf ferritin despite normal serum ferritin levels

•

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

•

en:decreased apoa-i and apoa-ii

•

en:elevated afp (endodermal sinus tumor)

•

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

•

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

•

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

•

en:contiguous gene deletion syndrome

•

en:cells show increased sensitivity to ionizing radiation

•

en:cd4/cd8 ratio decreased

•

en:at least 2 complementation groups

•

en:aminoaciduria

•

en:albuminuria

•

en:absent or abnormal thyroglobulin

•

en:abnormal urinary oligosaccharides

•

en:abnormal liver enzymes during illness

•

en:abnormal cholesterol homeostasis

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:elevated 17-hydroxyprogesterone

•

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

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

en:hyperglycinemia

•

en:increased pyruvate in serum and csf

•

en:increased plasma renin activity

•

en:increased plasma free cholesterol

•

en:increased plasma creatine

•

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

•

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

•

en:increased bile acid intermediates (dhca and thca)

•

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

•

en:igg, elevated

•

en:hypomethioninemia

•

en:hypocalcemia (male)

•

en:hypermethioninemia, progressive

•

en:hyperlipidemia

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

en:hyperammonemia after protein intake

•

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

•

en:high urinary orotic acid

•

en:hepatic glycine cleavage defect

•

en:hawkinsinuria

•

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

•

en:glycinuria

•

en:galactosemia

•

en:elevated sweat chloride

•

en:elevated serum phosphorus

•

en:elevated serum lactate

•

en:elevated sepiapterin in csf

•

en:elevated propionate

•

en:elevated plasma desmosterol

•

en:elevated inflammatory markers

•

en:elevated il1-beta

•

en:borderline elevated low-density lipoprotein

•

en:hyperlactemia

•

en:calciuria

•

en:low-molecular-weight proteinuria

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:normal pyridinoline excretion in urine

•

en:normal or mildly reduced sphingomyelinase activity

•

en:normal baseline cortisol

•

en:neutrophilia, both basal and during infections

•

en:n-glycosylation defect

•

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

•

en:myoglobinuria with extreme exertion

•

en:monomeric igm

•

en:mitochondrial malic enzyme reduced

•

en:mild hyperammonemia

•

en:lysyl hydroxylase deficiency

•

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

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:no evidence of common prenatal infections

•

en:ketonuria (1 patient)

•

en:intermittent severe hypoglycemia (in some patients)

•

en:intermittent 3-methylglutaconic aciduria

•

en:incresased urinary pyruvate

•

en:increased urinary taurine

•

en:increased urinary oxylate

•

en:increased urinary o-linked sialopeptides

•

en:increased urinary methylcitrate

•

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

•

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

•

en:increased urinary 3-methylglutaconic acid

•

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

•

en:increased serum thyrotropin

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:normal serum folate levels

•

en:no lactic acidosis

•

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

•

en:serum c-reactive protein may be increased

•

en:cellular arrest at g2 of the cell cycle

•

en:megaloblastic anemia due to dihydrofolate reductase deficiency

•

en:very low igg

•

en:variably increased serum creatine kinase

•

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

•

en:undetectable plasma dbh activity

•

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

•

en:type 1 collagen overmodification

•

en:transient neonatal hypocalcemia (2p21del)

•

en:transient hyperlipidemia

•

en:spongy degeneration of brain on histology

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

en:serum phosphate concentration below normal

•

en:serum folate low

•

en:schirmer test shows alacrima

•

en:parathyroid hormone (pth) absent to low

•

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

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:proteinuria in those with cystic kidneys

•

en:proteinuria

•

en:prolinuria

•

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

•

en:positive urinary bratton-marshall test

•

en:platelet factor 4 decreased

•

en:platelet antibody positive

•

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

•

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

•

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

•

en:parathyroid hormone normal

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:vitamin b12 deficiency (uncommon)

•

en:increased serum ammonia (group b)

•

en:decreased or absent histidase activity

•

en:elevated fibroblast free sialic acid

•

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

•

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

•

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

•

en:dyslipidemia

•

en:dermatan sulfate excretion in urine

•

en:dehydration

•

en:deficiency of saposins a, b, c, and d

•

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

•

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

•

en:defect in mitochondrial and peroxisomal fission

•

en:decreased thyroxine level

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

en:decreased or absent gch1 activity

•

en:elevated plasma campesterol

•

en:decreased monoamine oxidase a activity

•

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

•

en:decreased long-chain fatty acid oxidation

•

en:decreased leptin

•

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

•

en:decreased adiponectin

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

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

•

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

•

en:cytosolic phosphoenolpyruvate carboxykinase deficiency

•

en:cystathionine beta-synthase deficiency disease

•

en:cilia may also be static, with slow activity

•

en:cholesterol normal

•

en:cerebrospinal fluid lymphocytosis

•

en:elevated liver transaminases

•

en:decreased serum haptoglobin (in some patients)

•

en:elevated serum long-chain fatty acids

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:increased prv-1 (162860) mrna

•

en:increased plasma progastrin

•

en:elevated urinary epinephrine

•

en:increased levels of carcinoembryonic antigen

•

en:increased interferon-alpha signal

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

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

•

en:increased cellular sensitivity to uv light

•

en:increased biliverdin in bodily fluids

•

en:impaired creatine uptake in fibroblasts

•

en:hypoglycemia, intermittent

•

en:hypoglycemia

•

en:hypocholesterolemia

•

en:hyperuricosuria

•

en:increased rai (radioactive iodine) uptake

•

en:hyperglycemias, postprandial

•

en:gm2-ganglioside accumulation

•

en:hypercholesterolemia (reported in 2 patients)

•

en:elevated urinary hyaluronic acid levels

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

en:galactosuria

•

en:glucose-6-phosphate deficiency

•

en:glutaric acidemia type 1

•

en:fasting hypoglycemia (early in disease course)

•

en:hair bulb tyrosinase present

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:hla-dqw6 association (dqb1*0602)

•

en:hyperarginemia

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:hyperchloremia (mean 109 mm)

•

en:low or absent growth hormone (gh)

•

en:isovalericaciduria

•

en:keratan sulfaturia in some patients

•

en:low-normal igm

•

en:low maximal oxygen uptake on exercise testing

•

en:methylenetetrahydrofolate reductase deficiency

•

en:low serum alkaline phosphatase in heterozygotes

•

en:median mean platelet volume (mpv) 20fl

•

en:mildly prolonged bleeding time 10-12 minutes

•

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

•

en:mitochondrial deletions

•

en:infantile hypophosphatasia

•

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

•

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

•

en:increased urine porphyrins at times

•

en:increased urinary thiosulfate

•

en:increased serum thrombopoietin may occur

•

en:increased serum creatine kinase during episodes

•

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

•

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

•

en:increased plasma phytanic acid

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:increased interleukin 10

•

en:increased growth hormone (in 1 of 2 patients)

•

en:increased csf immunoglobulin levels

•

en:increased creatine kinase, mild to moderate

•

en:increased chromosomal breakage

•

en:myoglobinuria (reported in 1 patient)

•

en:increased ammonia with exercise

•

en:tsh decreased

•

en:myoglobinuria after exertion (in some patients)

•

en:proteinuria (type ii, congenital)

•

en:i-cell disease

•

en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine

•

en:transferase deficiency galactosemia

•

en:thymic hormone decreased

•

en:structural abnormalities seen on chromosome analysis

•

en:sterol 27-hydroxylase deficiency

•

en:severely impaired ciliary motility

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:serum creatinine raised

•

en:serum alkaline phosphatase normal or mildly increased

•

en:relatively low urinary pge-m levels

•

en:reduced platelet glycoprotein ib complex

•

en:prothrombin time low

•

en:prolidase deficiency

•

en:myopathy with type i fiber atrophy on muscle biopsy

•

en:positive kveim-siltzbach skin test

•

en:plasma triglycerides increased

•

en:plasma aldosterone normal

•

en:phytanic acid increased

•

en:phosphorylase kinase normal in muscle

•

en:phosphaturia (in some)

•

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

•

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

•

en:oestradiol decreased

•

en:normal serum complement levels

•

en:normal or decreased serum potassium

•

en:normal ciliary structure and function

•

en:normal b12

•

en:neutral hyperaminoaciduria

•

en:impaired n-glycosylation

•

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

•

en:hypoketotic hypoglycemia

•

en:creatine kinase normal between episodes

•

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

•

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

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:decreased intracellular fmr protein

•

en:decreased hepatic udp-glucuronyl-transferase activity

•

en:decreased circulating renin level

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:decreased axonal flare response after intradermal histamine injection

•

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

•

en:decreased activity of mitochondrial complex i

•

en:d-2-hydroxyglutaric aciduria

•

en:cystathioninuria (lab finding)

•

en:coarse metachromatic granules in white blood cells

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:chronic hypercapnia

•

en:cerebrospinal fluid oligoclonal bands

•

en:cell studies show increased dna breakage

•

en:cd4+/cd8+ ratio is reversed

•

en:broad tissue deposition of amylopectin-like material

•

en:anti-iga antibodies commonly present

•

en:aneuploidy of the x chromosome

•

en:alpha-fetoprotein normal

•

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

•

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

•

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

•

en:abnormal liver function tests during pregnancy, resolves postpartum

•

en:abnormal liver function test

•

en:vitamin d deficiency

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

en:decreased mitochondrial nadp(h)

•

en:hypocalciuria or normocalciuria

•

en:euvolemia

•

en:hypocalcemia, transient

•

en:hypoalbuminemia (in 83%)

•

en:hyperuricemia

•

en:hyperglycemia

•

en:hypercholesterolemia

•

en:hyperbilirubinemia in those with liver failure

•

en:high serum osmolality

•

en:heparan sulfate excretion in urine

•

en:hemophilia b

•

en:hematuria

•

en:glucosuria, mild, intermittent

•

en:foam cells in bone marrow and renal glomeruli

•

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

•

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

•

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

•

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

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

en:elevated plasma propionylcarnitine

•

en:elevated levels of vitamin b12

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:elevated calcitonin

•

en:elevated bilirubin (bilirubinemia)

•

en:elevated alpha-ketoglutarate (in most patients)

•

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

•

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

•

en:decreased telomerase activity

•

en:decreased serum complement factor h

•

en:decreased plasma apolipoprotein c-ii

•

en:tyrosine loss

•

en:elevated 1,25(oh)2 d3

•

en:4-hydroxyphenylactic aciduria

•

en:increased urinary carnitine esters

•

en:methioninuria

•

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

•

en:march myoglobinuria

•

en:low level of c4 and c2

•

en:low density lipoprotein increased

•

en:liver function tests normal

•

en:lactate high

•

en:lack of ciliary motility

•

en:keratan sulfate excretion in urine that decreases with age

•

en:intermittent ethylmalonic aciduria

•

en:indirect hyperbilirubinemia

•

en:increased vitamin e (alpha-tocopherol) levels

•

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

•

en:increased urinary 2-oxoglutaric acid

•

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

•

en:increased urinary 2-methylbutyrylglycine

•

en:increased uric acid with exercise

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased serum unconjugated bilirubin

•

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

•

en:increased serum lactate (mild)

•

en:increased serum ferritin (in some patients)

•

en:increased serum citrulline (group b)

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:increased osmotic fragility

•

en:increased neopterin in urine and csf

•

en:increased ige level

•

en:increased csf protein

•

en:methylglutaconic aciduria, mild

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:increased blood alanine

•

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

•

en:xanthine nephrolithiasis

•

en:urinary excretion of low-molecular-weight proteins, mild

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

en:undetectable serum l-transferrin (homozygous patient)

•

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

•

en:severe amyloid angiopathy

•

en:severely decreased palmitate oxidation

•

en:serum testosterone level normal

•

en:serum lactate is usually normal

•

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

•

en:reticulocytosis

•

en:reduced beating amplitudes in cilia

•

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

•

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

•

en:normal calcium (female)

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

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

•

en:pancreatic trypsinogen deficiency

•

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

•

en:occasional hypomagnesemia

•

en:no mucopolysacchariduria

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:no chromosomal breakage

•

en:no c8 antigen detected

•

en:normal serum cobalamin (vitamin b12)

•

en:normal plasma phytanic acid

•

en:normal male karyotype (46,xy)

•

en:increased csf glycine

•

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

•

en:iiga and igg antigliadin antibodies (aga)

•

en:decreased circulating cortisol level

•

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

•

en:decreased sulfite oxidase activity in fibroblasts

•

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

•

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

•

en:decreased plasma serine

•

en:decreased plasma arginine

•

en:decreased or increased serum testosterone

•

en:decreased or absent pts activity

•

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

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased decr enzyme activity

•

en:decreased csf homovanillic acid (hva)

•

en:decreased clot retraction

•

en:decreased antithrombin iii (rare)

•

en:decreased urinary excretion of uromodulin

•

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

•

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

•

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

•

en:decreased acid beta galactosidase protein and activity

•

en:complex organic aciduria

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

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

•

en:chromosomal instability

•

en:chondroitin 6-sulfate excretion in urine

•

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

•

en:argininosuccinic aciduria

•

en:igg deficiency

•

en:adrenocorticotropic hormone, increased

•

en:decreased tetrasialotransferrin levels

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:defects in mitochondrial oxidative phosphorylation

•

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

•

en:defect in dna repair

•

en:hyposialylation of o-linked serum glycans

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:hypocalcemia

•

en:hyperthreoninemia

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:hyperammonemia, episodic

•

en:homocysteinemia (in some patients)

•

en:high serum inosine levels

•

en:high m-component

•

en:hepatic gamma-cystathionase deficiency

•

en:heparin cofactor ii deficiency (disorder)

•

en:granular osmiophilic deposits (grod) in cells

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:folic acid deficiency

•

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

•

en:diffuse deposition of calcium oxalate in various tissues

•

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

•

en:elevated 8(9)-cholestenol

•

en:elevated androstenedione and testosterone

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:elevated csf/plasma glycine ratio

•

en:elevated gamma-glutamyltransferase

•

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

•

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

•

en:elevated serum angiotensin-converting enzyme (ace)

•

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

•

en:elevated urinary 2-ethylhydracrylate

•

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

•

en:low acth level

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low or undetectable c-peptide

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:low plasma arginine

•

en:low plasma methionine

•

en:low plasma tryptophan (inflammatory type b)

•

en:low serum acth

•

en:markedly increased serum creatine kinase

•

en:marked hypobetalipoproteinemia

•

en:leukocytosis

•

en:increased thyroid-stimulating hormone (tsh)

•

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

•

en:increased urinary isobutyryl glycine

•

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

•

en:increased urinary creatine

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:increased transferrin saturation (>60%)

•

en:increased serum gamma-ggt (231950)

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:increased lysine in serum and csf

•

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

•

en:increased intracellular fmrp mrna

•

en:increased excretion of urobilinogen

•

en:mild-moderate prolonged bleeding time

•

en:microduplication of chromosome 5p13

•

en:reduced serum uric acid

•

en:normal apoa-ii levels in homozygotes

•

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

•

en:vitamin k deficiency

•

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

•

en:uric acid normal

•

en:upregulation of alpha-interferon-stimulated genes

•

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

•

en:transcobalamin ii deficiency

•

en:thyroid dyshormonogenesis 5

•

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

•

en:serum copper decreased

•

en:serum cholesterol raised

•

en:serum carnitine deficiency

•

en:saposin a deficiency (finding)

•

en:reduced unsaturated serum cobalamin binding capacity

•

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

•

en:reduced iga

•

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

•

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

•

en:plasma protein c deficiency

•

en:plasma ammonia not elevated

•

en:pink urine

•

en:phosphaturia may disappear after a long period of time

•

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

•

en:normal urinary pterins

•

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

•

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

•

en:normal serum biotin concentration

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

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

◀

Génériques

[F] [H]

›

en:decreased

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846424 • caches: c1=14 c2=1087 c3=84

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