Le Diko - en:defects in mitochondrial oxidative phosphorylation

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Le Diko - en:defects in mitochondrial oxidative phosphorylation

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en:defects in mitochondrial oxidative phosphorylation

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:abnormal liver function tests during pregnancy, resolves postpartum

•

en:abnormal liver enzymes, intermittent (1 patient)

•

en:abnormal acylcarnitine profiles

•

en:abnormally low cerebrospinal fluid cystatin c

•

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

•

en:aberrant gamma-interferon-mediated inflammation

•

en:absence of chylomicrons in lymph and plasma

•

en:abnormal liver enzymes, episodic

•

en:abnormal cholesterol homeostasis

•

en:abnormal cardiolipin subspecies composition

•

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

•

en:abnormal urinary oligosaccharides

•

en:4-hydroxyphenylacetic aciduria

•

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

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:abnormal serum glycoproteins

•

en:absence of outer dynein arms

•

en:abnormal urinary compounds

•

en:abnormal n-glycosylation of transferrin

•

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

•

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

•

en:decreased serum thiamine pyrophosphate

•

en:defect in chylomicron secretion

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

en:decreased mucosal alkaline phosphatase

•

en:decreased nasal nitric oxide

•

en:fibroblasts show increased sensitivity to apoptosis

•

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

•

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

•

en:hydrocortisone decreased

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:laboratory abnormalities

•

en:bicarbonaturia

•

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

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

en:decreased or normal serum factor i

•

en:deficiency of creatine phosphate in brain

•

en:homocitrullinuria

•

en:absent 7-dehydrocholesterol

•

en:hypophosphatemia (less common)

•

en:elevated 7-dehydrocholesterol

•

en:hypocalciuria or normocalciuria

•

en:decreased xanthine dehydrogenase activity

•

en:high sister chromatid exchange (sce) rate

•

en:elevated urinary 2-ethylhydracrylate

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:hepatic argininosuccinate synthetase deficiency

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:granular osmiophilic deposits (grod) in cells

•

en:decreased levels of cpt2 protein

•

en:duplication or deletion at 11p15.5

•

en:hyperarginemia

•

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

•

en:histiocytic infiltration of liver, spleen, and lungs

•

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

•

en:elevated dihydrobiopterin in csf

•

en:2-oxoadipic aciduria

•

en:5-hiaa csf may be normal or decreased

•

en:abnormal igfr1 function

•

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

•

en:abnormal liver enzymes during illness

•

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

•

en:glycogen storage disease type vi

•

en:hereditary fructose intolerance

•

en:farber lipogranulomatosis

•

en:accumulation of guanidinoacetate in brain

•

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

•

en:decreased grhpr activity

•

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

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:elevated serum parathyroid hormone (pth)

•

en:abnormal cartilage collagen on em

•

en:high plasma asparagine

•

en:abnormal liver function tests (in some patients)

•

en:galactosylation defects

•

en:cytosolic phosphoenolpyruvate carboxykinase deficiency

•

en:hyperchloridura

•

en:elevated serum alpha-fetoprotein

•

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:decreased plasminogen antigen

•

en:hyperkalemia

•

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

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:elevated sed rate

•

en:elevated serum phosphate in heterozygotes

•

en:direct coombs test negative

•

en:elevated plasma desmosterol

•

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

•

en:igg, elevated

•

en:increased lysine in serum and csf

•

en:low-to-normal platelet count

•

en:low to normal plasma methionine

•

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

•

•

en:low-molecular-weight proteinuria

•

lactate augmenté

•

en:increased phytanic acid in body tissues and fluids

•

en:increased serum unconjugated bilirubin

•

en:lack of excessive parenchymal iron storage

•

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

•

en:increased urinary oligosaccharides

•

en:isovalericaciduria

•

en:increased serum thymidine

•

en:increased urinary n-acetylated amino acids

•

en:increased serum pyruvate in acute stage

•

en:secondarily decreased activity of the pyruvate dehydrogenase complex (pdc)

•

en:increased serum osteocalcin

•

•

en:elevated serum transferrin saturation

•

•

hypo-intense (signal IRM)

•

•

en:glomerular filtration rate decreased

•

agrégation des plaquettes diminuée

•

en:elevated serum very long chain fatty acids (vlcfa)

•

en:increased urinary s-(2-carboxypropyl)cysteine

•

hypo-bêta-lipoprotéinémie

•

en:thrombocytopenia

•

en:androgens increased

•

en:hypoalbuminemia

•

•

cholestérol normal

•

en:increased serum parathyroid hormone (pth)

•

en:low csf creatine

•

en:increased disialotransferrin and asialotransferrin levels

•

en:aminoaciduria (less common)

•

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

•

en:igm deficiency

•

en:elevated liver function tests

•

en:elevated serum lactate

•

en:homocystinuria (in some patients)

•

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

•

en:high serum guanosine levels

•

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

•

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

•

en:hyperglycinuria (disorder)

•

en:glycogen accumulation in both liver and muscle

•

en:cholesterol normal

•

en:ketonuria, acute

•

en:elevated plasma citrulline (citrullinemia)

•

en:elevated pth (parathyroid hormone)

•

en:high plasma citrulline (100-300 micromolar)

•

en:elevated sepiapterin in csf

•

en:increased serum lactate during metabolic crisis

•

en:increased csf and plasma ghb

•

en:increased fibroblast free sialic acid

•

en:increased serum butyryl carnitine

•

en:low plasma tryptophan (inflammatory type b)

•

en:increased excretion of urobilinogen

•

en:increased urinary oxylate

•

en:little to absent aspartylglucosaminuria activity

•

en:increased serum lactate in acute stage

•

en:increased serum creatine kinase in acute stage

•

en:increased cholesterol

•

en:hypogammaglobulinemia (in some patients)

•

en:galactosuria without galactosemia

•

en:elevated white blood cell cystine

•

en:decreased activity of coenzyme q10-dependent respiratory chain complexes

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

en:diffuse deposition of calcium oxalate in various tissues

•

en:decreased csf glycine

•

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

•

en:abnormal eeg in 25% hospitalized patients

•

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

•

en:abnormal liver enzymes, intermittent

•

en:electrolyturia (1 patient)

•

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

•

en:high serum inosine levels

•

en:elevated serum protein

•

en:cutaneous anergy

•

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

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:antineutrophil antibody positivity

•

en:excessive iodide trapping

•

en:decreased testosterone level

•

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

•

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

•

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

•

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

•

en:decreased factor xi

•

en:decreased tissue and serum alkaline phosphatase

•

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

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

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

•

en:chylomicronemia, refractory fasting

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

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

•

en:decreased activity of dihydrofolate reductase

•

en:abnormal columnization of chondrocytes

•

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

•

en:cd4+/cd8+ ratio often reversed

•

en:decreased renal calcium excretion

•

en:decreased b cells

•

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

•

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

•

en:frequent deletions of chromosome 9 in melanoma

•

en:xanthine nephrolithiasis

•

en:decreased plasma zinc levels

•

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

•

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

•

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

•

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

•

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

•

en:alpha fetoprotein increased

•

en:hyperammonemia

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:infantile hypophosphatasia

•

en:hyperlysinemia

•

en:hypercalciuria

•

en:abnormal liver enzymes (in some patients)

•

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

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:decreased cortisol-binding globulin

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:decreased long-chain fatty acid oxidation

•

en:hypofibrinogenemia

•

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

•

en:absent dystrophin on muscle biopsy

•

en:decreased transferrin increased serum iron

•

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

•

en:decreased galactokinase activity

•

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

•

en:hypoproteinemia (in 1 patient)

•

en:decreased methionine synthase activity

•

en:hyperglycemias, postprandial

•

en:decreased serum alpha-2 macroglobulin levels

•

en:decreased tetrasialotransferrin levels

•

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

•

en:elevated fibroblast free sialic acid

•

en:elevated hepatic transaminases

•

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

•

en:defect in mitochondrial and peroxisomal fission

•

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

•

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

•

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

•

en:elevated 17-hydroxyprogesterone

•

en:low or undetectable c-peptide

•

en:ketoacidosis

•

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

•

en:low serum magnesium

•

en:increased urinary dopamine

•

en:low or undetectable insulin

•

en:low serum levels of ketone bodies

•

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

•

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

•

en:increased urinary homovanillic acid (hva)

•

en:intermittent ethylmalonic aciduria

•

en:increased serum uric acid

•

en:increased pyruvate in serum and csf

•

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

•

en:increased urinary 7-biopterin (primapterin)

•

en:low plasma methionine

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:intermittent increase of urinary ethylmalonic acid

•

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

•

en:lack of ciliary motility

•

en:prothrombin time increased

•

en:defective glcnac-pi synthesis

•

en:hyperlipoidaemia

•

en:transferase deficiency galactosemia

•

réparation défectueuse de l'ADN

•

•

en:glutaric aciduria, type 1

•

en:hyperlipoproteinemia type iib

•

•

en:low acth level

•

déficit en vitamine D

•

en:hyperammonemia during episodes

•

en:increased serum alpha-alanine (patient b)

•

en:mean platelet volume (mpv) 12.6fl

•

en:increased serum total cholesterol

•

en:low growth hormone levels

•

en:increased urinary thiosulfate

•

en:low or low-normal serum t4

•

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

•

en:increased urinary dicarboxylic acid, transient

•

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

•

en:impaired response to gm-csf

•

en:electron microscopy of foam cells shows lamellar inclusions

•

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

•

en:decreased serum thyroxine (t4)

•

en:glycosuria (less common)

•

en:decreased serum luteinizing hormone (lh)

•

en:hyperbilirubinemia in those with liver failure

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:hypercholesterolemia (10%)

•

en:elevated serum transaminases during infections

•

en:decreased levels of plasma factor viii

•

en:elevated plasma cholestanol

•

en:alpha ketoadipic aciduria

•

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

•

en:increased urinary organic acids (in some patients)

•

en:decreased serum androgens

•

en:decreased adenosylcobalamin

•

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

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:anomalies of cholesterol levels

•

en:incresased urinary pyruvate

•

en:decreased plasma glycine

•

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

•

en:increased csf homovanillic acid (hva)

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:increased 18-ohb to aldosterone ratio

•

en:elevated sweat chloride (some)

•

•

en:elevated ferritin l subunit

•

en:hyperthreoninuria

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:elevated crp

•

en:elevated mchc

•

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

•

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

•

en:decreased or absent glycogen branching enzyme activity

•

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

•

en:decreased plasmalogens

•

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

•

hydrocortisone diminuée

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:decreased serum 18-ohb

•

en:decreased csf pyridoxal

•

en:decreased activity of pyruvate dehydrogenase complex

•

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

•

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

•

en:accumulation of cholesterol esters in various tissues

•

en:decreased serum c3 (atypical hus)

•

en:abnormal liver function tests (sgot, sgpt)

•

en:homozygous 122kb deletion 11p15-p14

•

en:elevated ammonia

•

en:hypouricemia

•

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

•

en:hypokalemia during attacks

•

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

•

en:decreased or absent udp-glucuronyl-transferase activity

•

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

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

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

•

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

•

en:elevated urine ceramide levels

•

en:elevated plasma insulin

•

en:elevated urinary ornithine, lysine, arginine

•

en:aldosterone level increased above normal

•

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

•

en:defective dna repair

•

en:elevated calcitonin

•

en:decreased circulating aldosterone level

•

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

•

en:abnormal oral glucose tolerance

•

en:decreased thrombospondin

•

en:decreased activity of mitochondrial respiratory complexes

•

en:diminished lymphocyte response to phytohemaglutinin

•

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

•

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

•

en:abnormal transaminases (1 patient)

•

en:transaminitis

•

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

•

en:decreased fibrinogen (in some patients)

•

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

•

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

•

en:alkaline phosphatase decreased

•

en:bone marrow hypoplasia (in some patients)

•

en:liver enzymes abnormal

•

en:reactive hypoglycemia

•

en:decreased nk cells (in some patients)

•

en:increased ige level

•

en:glycogen storage disease type v

•

en:argininosuccinic aciduria

•

en:hyperlipidemia

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

en:abnormal serum liver enzyme levels

•

en:elevated blood spot hydroxybutyryl carnitine

•

en:3-methylglutaconic aciduria (3-mgc)

•

en:decreased or normal serum factor b

•

en:decreased or absent dihydropteridine reductase activity

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:hypercalciuria (in childhood)

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

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

•

en:elevated urinary 3-methylglutarate

•

en:hypercholesterolemia (disorder)

•

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

•

en:decreased tissue total and free carnitine

•

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

•

en:decreased or normal plasma insulin

•

en:defective bile acid metabolism

•

en:gamma-glutamylcysteine deficiency

•

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

•

en:high ebv viral load

•

en:decreased serum igm

•

en:creatine kinase normal between episodes

•

en:dermatan sulfate excretion in urine

•

en:elevated il6

•

en:elevated plasma acth

•

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

•

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

•

en:high ft3/ft4 ratio

•

en:increased lactate in spinal fluid

•

en:increased plasma pristanic acid

•

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

•

en:lactic acidemia (2p21del)

•

en:low 25-oh-vitamin d level

•

en:low serum levels of branched-chain amino acids

•

en:increased urinary neopterin

•

en:increased 18-oxocortisol

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:markedly increased serum creatine kinase

•

en:low plasma triglyceride level

•

en:increased urinary creatine-to-creatinine ratio

•

en:median mean platelet volume (mpv) 18fl

•

lactate élevé

•

hypophosphatasie infantile

•

en:karyomegaly may be found in other visceral organs

•

en:increased urinary vanillylmandelic acid (vma)

•

en:increased urinary potassium

•

en:absence of protein-bound lipoic acid

•

en:increased urinary orotic acid (in some patients)

•

en:decreased ubiquinone-10

•

cétose de jeûne

•

syndrome de déficit en immunoglobulines

•

en:avitaminosis D

•

en:Bassen-Kornzweig's disease

•

•

hypofibrinogénémie

•

acidurie dicarboxylique

•

•

en:increased urinary glyoxylate (1 patient)

•

•

en:serum iron normal

•

en:'ghost' peroxisomes in fibroblasts seen on immunofluorescence microscopy

•

•

hypogammaglobulinémie

•

acidurie glutarique

•

coagulopathie intravasculaire disséminée

•

en:increased serum alpha-ketoglutarate

•

en:increased urine vanillactic acid (vla)

•

en:hyperlipidaemia

•

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

•

en:homocysteinemia

•

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

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

en:elevated plasma propionylcarnitine

•

en:hepatic ornithine transcarbamylase deficiency

•

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

•

en:atrial abnormalities on electrocardiogram

•

en:elevated testosterone

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:increased serum citrulline (group b)

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

en:elevated urinary 3-methylglutaconate

•

en:hepatic lipase deficiency (disorder)

•

en:hypocalcemia (male)

•

en:hypobetalipoproteinemias

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

en:hair bulbs will pigment when incubated with tyrosine

•

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

•

en:increased osmotic fragility

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:increased serum methionine (reported in 2 cases)

•

en:increased bone serum acid phosphatase

•

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

•

en:increased il-6

•

en:low or absent iga levels

•

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

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:intermittent 3-methylglutaconic aciduria

•

en:increased serum beta-hexosaminidase

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:increased platelet aggregation with ristocetin

•

en:increased serum c4 and c5 acylcarnitine esters

•

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

•

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

•

en:low copper and ceruloplasmin

•

en:increased urinary 3-methylglutaconic acid

•

en:increased urinary tricarboxylic acid intermediates

•

en:increased urinary excretion of cystine

•

en:increased csf immunoglobulin levels

•

en:inappropriately low urine osmolality

•

en:iiga and igg antigliadin antibodies (aga)

•

en:aminoaciduria (1 patient)

•

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

en:absent axonal flare response to intradermal histamine injection

•

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

•

en:aldolase a deficiency

•

en:impaired creatine uptake in fibroblasts

•

en:abnormal liver enzymes (rare)

•

en:hyperglycolic aciduria

•

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

•

en:5-alpha-reductase-2 enzyme deficiency

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

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

•

en:anti-factor viii positive

•

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

•

en:abnormal nasal potential difference

•

en:hyponatremic dehydration, rarely

•

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

•

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

•

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

•

en:decreased hepatic udp-glucuronyl-transferase activity

•

en:decreased or normal serum c3

•

en:decreased fibroblast alpha-mannosidase

•

en:decreased serum iga

•

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

•

en:decreased phk activity in liver

•

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

•

en:distal xp22.3 segmental monosomy

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:hyperthreoninemia

•

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

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

en:cystathioninuria (lab finding)

•

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

•

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

•

en:4-hydroxyphenyllactic aciduria

•

en:abnormal dystrophin on muscle biopsy

•

en:abnormal fecal fat

•

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

•

en:abnormal nuclear morphology

•

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

•

en:abnormal serum transferrin pattern (in some patients)

•

en:glycogen storage disease type vii

•

en:blood urea nitrogen increased

•

en:alkaline phosphatase serum increased

•

en:disseminated intravascular coagulation

•

en:decreased blood levels of cationic amino acids

•

en:decreased activity of thymidine phosphorylase

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:elevated urinary delta-aminolevulinic acid

•

en:decreased activity of galactocerebrosidase

•

en:elevated ast and ldh, especially infantile-onset

•

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

•

en:decreased urinary sulfate

•

en:defective dna repair after ultraviolet radiation damage

•

en:glutathione deficiency

•

en:exercise-induced myoglobinuria

•

en:broad tissue deposition of amylopectin-like material

•

en:elevated serum uric acid concentrations

•

en:elevated creatine kinase (in some patients)

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:decreased complement factor d

•

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

•

en:cytoplasmic lamellar inclusions consistent with neuronal ceroid lipofuscinosis (in some patients)

•

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

•

en:markedly reduced igg levels

•

en:decreased urinary calcium and phosphate excretion

•

en:increased serum acyl carnitines

•

en:increased serum ige

•

en:increased serum fgf23

•

en:increased serum creatine kinase during episodes

•

en:lower total cholesterol

•

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

•

en:interstitial or terminal deletion of 18q

•

en:increased urinary malic acid

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

hypophosphatasie foetale

•

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

•

en:increased serum beta-carotene

•

en:low fasting glucose (in some patients)

•

en:increased plasma proglucagon

•

en:increased urinary glycerol

•

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

•

en:increased urinary succinic acid

•

en:serum growth hormone increased

•

en:factor viii deficiency

•

maladie de Tay-Sachs

•

maladie de Tay-sachs

•

agrégation plaquettaire sai diminuée

•

intolérance au fructose

•

•

en:holocarboxylase synthetase deficiency

•

en:low serum ceruloplasmin

•

en:hyperlipoproteinemia type i

•

•

en:serum cholesterol raised

•

•

en:vitamin d deficiency

•

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

•

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

•

en:hypernatraemia

•

en:increased sodium-potassium pump activity

•

en:elevated resting serum lactate, increased with exercise

•

en:defect in double-stranded dna repair

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:coagulopathy (inr = 2.2 - 3.5)

•

en:chronic hypoxemia

•

en:glutaric aciduria

•

en:decreased serum factor h (atypical hus)

•

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

•

en:hypercholesterolemia

•

en:decreased serum carnitine in acute stage

•

en:hypoglycorrhachia (low glucose in csf)

•

en:hyperchloremia (mean 111 mm)

•

en:elevated pregnenolone

•

en:gaucher disease, type 1

•

en:decreased plasma and urinary ornithine

•

en:abnormal phospholipid profile

•

en:hypermethioninemia, progressive

•

en:decreased plasma esterified cholesterol

•

en:increased serum 1,25-dihydroxyvitamin d

•

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

•

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

•

en:increased long-chain acylcarnitine

•

en:increased 11-deoxycortisol

•

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

•

en:increased serum triglycerides (in some patients)

•

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

•

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

•

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

•

en:elevated serum levels of adenosine

•

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

•

en:galactosyltransferase i deficiency in fibroblasts

•

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

•

en:absence of hepatic udp-glucuronyl-transferase

•

en:decreased serum acth

•

en:chondroitin 6-sulfate excretion in urine

•

en:decreased c3 antigen

•

en:decreased mitochondrial nadp(h)

•

en:cellular arrest at g2 of the cell cycle

•

en:hematuria (less common)

•

en:decreased phgdh activity (fibroblasts)

•

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

•

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

•

en:decreased agt activity

•

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

•

en:decreased copper, iron, zinc

•

en:decreased csf arginine

•

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

•

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

•

en:elevated alpha-ketoglutarate (in most patients)

•

en:hla-dqw6 association (dqb1*0602)

•

en:elevated levels of vitamin b12

•

en:defect in n- and o-glycosylation

•

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

•

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

•

en:elevated erythrocyte adenosine deaminase activity

•

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

•

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

•

en:acute hyperammonemia

•

en:decreased acid sphingomyelinase activity

•

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

•

en:electrolyte disturbances from intractable diarrhea

•

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

•

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

•

en:decreased asparagine levels (in some patients)

•

en:cytogenetic deletion of chromosome 17p13.3

•

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

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

en:glycoamino aciduria

•

en:3-methylglutaric aciduria (3-mga)

•

en:abnormal liver function test

•

en:abnormal liver function tests (less common)

•

en:abnormal transferrin isoelectric focusing (ief)

•

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

•

en:hypernatremia

•

en:hemophilia b

•

en:i-cell disease

•

en:tay-sachs disease

•

en:lactate dehydrogenase increased

•

en:polycythemia

•

en:absent alkyl-dhap synthase activity

•

en:decreased acetyl-coa carboxylase activity

•

en:chromosomal rearrangement

•

en:abetalipoproteinemia (lab finding)

•

en:folic acid deficiency

•

en:hypertryptophanemia

•

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

•

en:chromosome 11q23.3 deletion

•

en:decreased insulin receptor binding

•

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

•

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

•

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

•

en:decreased von willebrand factor

•

en:deficiency of laminin in basement membranes

•

en:decreased serum rt3

•

en:elevated 3-methylcitric acid

•

en:elevated leukotriene e(4)

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

en:decreased cerebrospinal fluid folic acid

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:delta-1-pyrroline-5-carboxylate dehydrogenase activity decreased in fibroblasts or leukocytes

•

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

•

en:low csf creatinine

•

en:increased 18-hydroxycortisol

•

en:increased serum acylcarnitines

•

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

•

en:liver phosphorylase kinase (phk) deficiency

•

en:increased serum pyruvate

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

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

•

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

•

en:increased urinary acetoacetic acid

•

en:low plasma citrulline

•

en:increased ck-mb

•

en:increased serum lysine (group b)

•

en:low leukocyte alkaline phosphatase activity

•

en:lysosomal-like storage vacuoles in various tissues

•

en:median mean platelet volume (mpv) 12.5fl

•

en:increased plasma long-chain acylcarnitines

•

en:serum bicarbonate increased

•

en:vitamin D deficiency

•

en:elevated serum parathyroid hormone (pth) level

•

•

•

en:hemophilia B

•

•

•

en:increased plasma renin activity

•

hypo-bêtalipoprotéinémie

•

en:increased bilirubin (patient b)

•

hypobêtalipoprotéinémie

•

méthémoglobinémie

•

en:intermediate level of cellular sensitivity to uv light

•

en:isovalerylglycinuria

•

en:low-normal igm

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased urinary thymine

•

en:elevated erythrocyte adenosine deaminase

•

en:decreased dermal hydroxylysine content

•

en:elevated serum levels of luteinizing hormone (lh)

•

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

•

en:defective (ca2+) mobilization in t cells

•

en:fragmentation of the mitochondrial network

•

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

•

en:decreased axonal flare response after intradermal histamine injection

•

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

•

en:heparan sulfate excretion in urine

•

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

•

en:exercise-induced myoglobinuria in adults

•

en:elevated plasma luteinizing hormone (lh)

•

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

•

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

•

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

•

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

•

en:generalized amyloid deposition

•

en:nonketotic hypoglycemia

•

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

•

en:increased igg level

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:increased erythrocyte sedimentation rate, episodic

•

en:increased urinary excretion of camp

•

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

•

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

•

en:premature separation of centromeric heterochromatin

•

en:high urinary copper

•

en:dicarboxylic aciduria

•

en:hyperprolinemia (5-10 times normal)

•

en:decreased serum complement factor h

•

en:cytoplasmic lamellar concentric inclusions

•

en:hair bulb tyrosinase present

•

en:'rectilinear profiles' ultrastructurally in cells

•

en:decreased switched memory b cells

•

en:decreased numbers of t regulatory cells

•

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

•

en:hypokalemia during periodic paralysis (most patients)

•

en:decreased serum bun

•

en:alkaline phosphatase normal

•

en:decreased or absent serum citrulline

•

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

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

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

•

en:hypertriglyceridemia

•

en:abnormally triglyceride-rich low and high density lipoproteins and beta-migrating very low density lipoproteins

•

en:decreased activity of nadph oxidase

•

en:decreased csf methyltetrahydrofolate (mthf)

•

en:elevated 3-hydroxypropionic acid

•

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

•

en:decreased methylmalonyl-coa mutase activity

•

en:immunoreactive pc protein

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated 8-dehydrocholesterol

•

en:hyperphenylalaninemia

•

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

•

en:elevated urinary and csf ribitol and d-arabitol

•

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

•

en:axonemes show normal structure

•

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

•

en:dolichyl-p-man:man(5)glcnac(2)-pp-dolichyl mannosyltransferase deficiency

•

en:hyperprolinemia (10-15 times normal)

•

en:elevated 1,25(oh)2 d3

•

en:high nonceruloplasmin-bound serum copper

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:abacterial leukocyturia

•

en:urocanase deficiency

•

en:abnormal liver enzymes (1 patient)

•

en:decreased dna excision repair

•

en:decreased cpt1 activity

•

en:decreased metabolism of thiopurine drugs

•

en:d-2-hydroxyglutaric aciduria

•

en:decreased csf homovanillic acid (hva)

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:decreased adiponectin

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

•

en:hemoglobin f increased

•

en:platelet function test normal

•

en:isovaleric acidemia

•

en:transcobalamin ii deficiency

•

en:hyperprolinemia type 1

•

en:excessive urinary 5-oxo-l-proline

•

en:ballooned neurons

•

en:decreased fibroblast iduronate sulfatase

•

en:elevated plasma methionine (methioninemia)

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

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

•

en:3-methylglutaconic aciduria

•

en:fasting hypoglycemia (early in disease course)

•

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

•

en:elevated alkaline phosphatase of bone origin

•

en:elevated urinary pge(2) levels

•

en:decreased activity of complement factor d

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:fibronectin decreased

•

en:elevated serum iron and iron binding capacity

•

en:galactosuria

•

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

•

en:elevated erythrocyte aicar (zmp)

•

en:absent platelet agglutination in presence of ristocetin

•

en:elevated plasma alloisoleucine

•

en:glucosidase i deficiency in liver and fibroblasts

•

en:increased serum creatine kinase (less common)

•

en:foam cells in bone marrow and renal glomeruli

•

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

•

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

•

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

•

en:low ldl cholesterol

•

en:increased serum lactate

•

en:increased urinary 2-methylacetoacetic acid

•

en:increased plasma and urinary pipecolic acid

•

en:increased total bilirubin may occur

•

en:marked elevation of erythrocyte sedimentation rate

•

en:increased vitamin e (alpha-tocopherol) levels

•

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

•

en:iron overload (in some patients)

•

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

•

en:isochromosome often missing in lymphocyte

•

en:increased csf threonine

•

en:low cholesterol esterification rates

•

en:low rai (radioactive iodine) uptake

•

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

•

homocystéinémie

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

en:hypercalcaemia

•

déficit en biotinidase

•

en:increased creatinine

•

en:accumulation of truncated oligosaccharides man(5)glcnac2 and man(9)glcnac(2)

•

bicarbonate sérique augmenté

•

acidurie glutarique de type 1

•

en:increased serum vitamin b12

•

en:glutaric acidemia type 1

•

en:factor vii deficiency

•

en:raised tsh level

•

en:transferrin saturation increased

•

en:decreased activity of branched-chain ketoacid dehydrogenase (bckdh)

•

en:ketonuria (1 patient)

•

•

en:increased urinary and serum glycine

•

thrombocytopénie

•

en:increased serum creatine kinase (1 family)

•

en:hypercholesterolemia (in 75%)

•

en:dilated rough endoplasmic reticulum (rer)

•

en:ferritin decreased

•

en:4-hydroxyphenylactic aciduria

•

en:fluorescence of red blood cells by uv microscopy

•

en:hyperkalemia during attacks

•

en:elevated il1-beta

•

en:decreased serum cobalamin

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:decreased plasminogen activity

•

en:complex organic aciduria

•

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

•

en:elevated bilirubin (bilirubinemia)

•

en:hyponatremia in infancy

•

en:increased lactate: pyruvate ratio (group b)

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

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

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

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

•

en:decreased serum vitamin a

•

en:decreased platelet derived growth factor

•

en:decreased plasma total and free carnitine

•

en:hypoproteinemia due to hypercatabolism

•

en:creatine phosphokinase increased

•

en:enzyme replacement therapy has not been effective

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:hypertriglyceridemia, transient

•

en:gonadotrophin increased

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:hepatic argininosuccinase deficiency

•

en:creatine phosphokinase serum increased

•

en:dhea sulfotransferase below limit of detection

•

en:hyperhomocystinemia

•

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

•

en:eosinophilia, mild

•

en:cortisol does not decrease on dexamethasone suppression test

•

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

•

en:deficiency or absence of p91-phox protein

•

en:decreased tetrasialo-transferrin

•

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

•

en:glyoxalase deficiency

•

en:decreased csf serine

•

en:disorganized growth plate cartilage

•

en:decreased glomerular filtration rate (gfr)

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

en:glucosuria, mild, intermittent

•

en:high newborn serum levels of immunoreactive trypsinogen

•

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

•

en:impaired n-glycosylation

•

en:impaired oxidation of pyruvate

•

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

•

en:elevated urinary mevalonic acid

•

en:elevated serum alpha-fetoprotein (dominant)

•

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

•

•

en:elevated free carnitine

•

en:dermatan and heparan sulfate excretion in urine

•

en:fibroblasts show decreased mitochondrial complex v activity

•

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

•

en:hyperchloremia (mean 114 mm)

•

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

•

en:antiphospholipid antibody

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:high sweat sodium and chloride

•

en:gm2-ganglioside accumulation

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:abnormal lipid profile

•

en:decreased acid beta galactosidase protein and activity

•

en:aminoaciduria, intermittent

•

en:decreased fbp1 enzyme activity

•

en:chromosomal instability

•

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

•

en:decreased activity of thiopurine s-methyltransferase

•

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

•

en:decreased glycerol kinase activity

•

en:csf pleocytosis, particularly of lymphocytes

•

en:decreased erythrocyte plasmalogen

•

en:creatine kinase levels may normalize with disease progression

•

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

•

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

•

en:decreased serum leptin

•

en:decreased activity of mitochondrial respiratory chain complex i

•

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

•

en:decreased activity of ppt1

•

en:elevated gamma-glutamyltransferase (ggt)

•

en:iga antiendomysial antibodies (ema)

•

en:prolonged partial thromboplastin time

•

en:decreased whole blood serotonin

•

abêtalipoprotéinémie

•

en:low or normal serum erythropoietin

•

en:increased ammonia with exercise

•

en:increased fractional excretion of uric acid

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:low or absent thyrotropin (tsh)

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low serum igg and iga

•

cholestérol sanguin élevé

•

en:plasma aldosterone normal

•

en:increased serum insulin-like growth factor 1 {comment=hpo:probinson}

•

en:abnormal isoelectric focusing of serum transferrin, type 2 pattern

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:parathyroid hormone level increased

•

en:elevated alkaline phosphatase

•

mucolipidose type II

•

en:sweat test normal

•

en:hypophosphatasia infantile

•

•

hypoalbuminémie

•

hyperphosphatémie

•

maladie de tay-sachs

•

•

en:increased urinary sialylglycopeptides

•

en:large spermatozoa

•

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

•

en:intracellular accumulation of unesterified cholesterol

•

en:immunoglobulin a decreased

•

en:methemoglobinemia

•

en:increased interleukin 10

•

en:increased serum acylcarnitine during febrile crisis

•

en:increased blood alanine

•

en:increased neopterin in urine and csf

•

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

•

en:increased urinary hydroxyisovaleric acid

•

en:increased tissue levels of triglycerides

•

en:increased hepatic parenchymal cell stainable iron

•

en:increased ferritin

•

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

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:lack of lysosomal inclusions in visceral organs

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

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

•

en:increased urinary 2-butanone

•

en:increased serum c26-bile-acid intermediates

•

en:increased igm level

•

en:increased urinary citric acid cycle intermediates

•

en:increased urinary dihydropyrimidines

•

en:increased urinary prostaglandin e2

•

en:increased urinary hypoxanthine

•

en:hyperglycinemia (1 patient)

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6845671 • caches: c1=6 c2=1002 c3=1

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