Diko : en:decreased csf ferritin despite normal serum ferritin levels

en:decreased csf ferritin despite normal serum ferritin levels

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1863332

Associations d'idées

[F]

›

1000

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

•

en:increased urinary excretion of coproporphyrin i

•

en:some fragmented or disrupted golgi

•

en:alkaline phosphatase decreased

•

en:d-2-hydroxyglutaric aciduria

•

en:decreased urinary calcium and phosphate excretion

•

en:elevated plasma ammonia

•

en:elevated urinary mevalonic acid

•

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

•

en:hydroxyprolinuria

•

en:increased serum osteocalcin

•

en:increased urinary, plasma, and csf dihydrouracil

•

en:igg, elevated

•

en:normal lysosomal hydrolases

•

en:hypouricemia

•

en:severely decreased antigen levels of vwf and factor viii

•

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

•

en:plasma triglycerides increased

•

en:low serum acth

•

en:normal free urinary cortisol

•

en:decreased plasma arginine

•

en:decreased adenosylcobalamin

•

en:decreased activity of nadph oxidase

•

en:5-oxoprolinase deficiency

•

en:sweat test normal

•

en:low csf creatinine

•

en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria

•

en:chromosomal mosaicism in cultured cells

•

en:cystathioninuria (lab finding)

•

en:decreased serum free thyroxine

•

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

•

en:elevated urinary phosphoethanolamine

•

en:increased ammonia with exercise

•

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

•

en:prominent leukocytosis (30,000/ml)

•

en:2-aminoadipic aciduria

•

en:mild elevation of triglycerides

•

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

•

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

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

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

•

en:incomplete n-glycosylation of cellular proteins

•

en:decreased fbp1 enzyme activity

•

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

•

en:decreased activity of thiopurine s-methyltransferase

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

en:elevated serum protein

•

en:decreased sulfite oxidase activity

•

en:deficiency of serum properdin p factor

•

en:hyperammonemia

•

en:increased serum creatine kinase during episodes

•

en:increased serum methionine

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

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

•

en:hyperglycinemia (1 patient)

•

en:hyperchloremia (mean 114 mm)

•

en:rheumatoid factor negative

•

en:serum and csf lactate may be increased

•

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

•

en:serum testosterone level normal

•

en:normal or mildly reduced sphingomyelinase activity

•

en:myoglobinuria with extreme exertion

•

en:increased urinary isobutyryl glycine

•

en:increased serum and csf glycine

•

en:alanine aminotransferase increased

•

en:broad tissue deposition of amylopectin-like material

•

en:chylomicronemia, refractory fasting

•

en:decreased serum factor h (atypical hus)

•

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

•

en:hypermagnesemia

•

en:no hyperphenylalaninemia

•

en:urine osmolarity decreased

•

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

•

en:negative nitroblue tetrazolium (nbt) reduction test

•

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

•

en:increased serum unconjugated bilirubin

•

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

•

en:moderately decreased to normal phk activity in skeletal muscle

•

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

•

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

•

en:increased serum thymidine

•

en:thrombocytosis (in some patients)

•

en:increased csf threonine

•

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

•

en:elevated urinary epinephrine

•

en:elevated circulating parathyroid hormone (pth) level

•

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

•

en:increased urinary cortisol/cortisone ratio

•

en:liver phosphorylase kinase (phk) deficiency

•

en:normal arterial oxygen saturation

•

en:pipecolic acidemia

•

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

•

en:chromosomal instability

•

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

•

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

•

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

•

en:impaired mitochondrial translation

•

en:mildly elevated acth

•

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

•

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

•

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

•

en:platelet factor 4 decreased

•

en:mildly decreased phosphaturic response to pth administration has been reported in some cases

•

en:low plasma tryptophan (inflammatory type b)

•

en:increased urinary thymine

•

en:increased serum s-adenosylhomocysteine

•

en:increased levels of carcinoembryonic antigen

•

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

•

en:decreased serum iron (in some patients)

•

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

•

en:hyperammonemia after protein intake

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

en:increased serum creatine kinase (less common)

•

en:increased serum levels of free plasma thyroid hormones

•

en:normal to increased plasma threonine

•

en:decreased serum glucosyltransferase (ggt) activity

•

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

•

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

•

en:low or normal serum erythropoietin

•

en:normal csf neurotransmitters

•

en:normal mitochondrial respiratory chain complex i-v (hcs)

•

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

•

en:glucose-6-phosphate deficiency

•

en:impairment of urinary concentration

•

en:increased plasma creatine

•

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

•

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

•

en:decreased methylmalonyl-coa mutase activity

•

en:hyperlipidemia

•

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

•

en:elevated liver function tests

•

en:elevated 17-hydroxyprogesterone

•

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

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:increased uric acid level

•

en:normal iga levels

•

en:elevated biopterin in csf

•

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

•

en:normal or mildly decreased arylsulfatase a activity

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:keratan sulfate excretion in urine that decreases with age

•

en:normal urinary cyclic amp response to pth administration

•

en:decreased serum levels of maoa products

•

en:urinary calcium-creatinine ratio < 0.01:1 supports diagnosis

•

en:platelet count normal

•

en:pentagastrin stimulation test

•

en:normal sedimentation rate

•

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

•

en:antithrombin iii deficiency

•

en:decreased or absent udp-glucuronyl-transferase activity

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:galactosuria without galactosemia

•

en:hemophilia b

•

en:high serum osmolality

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

en:hypocalcemia, transient

•

en:very low leptin level

•

en:increased disialo- and asialotransferrin

•

en:increased csf homovanillic acid (hva)

•

en:intracellular granular material on ultrastructural analysis

•

en:intermittent ethylmalonic aciduria

•

en:increased urinary 2-butanone

•

en:increased soluble il2 receptor

•

en:elevated plasma methionine (methioninemia)

•

en:aldosterone level increased above normal

•

en:urinary excretion of mucopolysaccharides

•

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

•

en:low alkaline phosphatase

•

en:iodine depletion

•

en:isovalericaciduria

•

en:isovalerylglycinuria

•

en:lactate pyruvate ratio normal

•

en:lactic acidemia (2p21del)

•

en:low plasma triglyceride level

•

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

•

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

•

en:methylenetetrahydrofolate reductase deficiency

•

en:increased urinary prostaglandin e2

•

en:mildly elevated blood ammonia

•

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

•

en:increased urinary sulfatides

•

en:increased urinary 3-oh-propionic acid

•

en:increased urinary orotic acid (in some patients)

•

en:increased urinary glycosphingolipids, particularly globotriaosylceramide

•

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

•

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

•

en:normal 46,xy karyotype

•

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

•

en:increased serum uric acid

•

en:increased serum s-adenosylmethionine

•

en:increased serum lactate (patient a)

•

en:increased serum fgf23

•

en:increased serum bilirubin due to hemolysis

•

en:increased platelet aggregation with ristocetin

•

en:increased plasma pristanic acid

•

en:increased plasma phytanic acid

•

en:mild eosinophilia may occur

•

en:normal serum phosphorus

•

en:normal cd8+/cd4+ ratio

•

en:reduced liver and red cell uroporphyrinogen decarboxylase (uro decarboxylase)

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

en:uremia

•

en:thyroid dyshormonogenesis 4

•

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

•

en:tay-sachs disease

•

en:subtelomeric deletion of chromosome 16p

•

en:some cilia show central complex and radial spoke defects

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:serum osmolality decreased

•

en:serum iron raised

•

en:serum albumin low result

•

en:rheumatoid factor positive (finding)

•

en:reduced platelet glycoprotein ib complex

•

en:reduced bending capacity of cilia

•

en:normal igm levels

•

en:prolonged bleeding time

•

en:prolonged activated partial prothrombin time (appt)

•

en:prolidase deficiency

•

en:premature chromosome condensation

•

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

•

en:poor mitogenic response to growth factors

•

en:peroxisome deficiency

•

en:patient cells show a defect in transcription-coupled and global genome nucleotide excision repair

•

en:oestradiol decreased

•

en:normocalcemia

•

en:normal to elevated total plasma carnitine

•

en:increased il-6

•

en:normal plasma and tissue carnitine

•

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

•

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

•

en:hyperoxalaemia

•

en:increased creatinine

•

en:chronic hypercapnia

•

en:decreased mucosal alkaline phosphatase

•

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

•

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

•

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

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

en:decreased activity of mitochondrial respiratory complexes

•

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

•

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

•

en:creatine phosphokinase serum increased

•

en:coarse metachromatic granules in white blood cells

•

en:citrullinemia

•

en:calcium normal

•

en:decreased plasma total and free carnitine

•

en:bone marrow hypoplasia (in some patients)

•

en:bilirubin conjugated increased

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

en:antiribonuclear protein positive

•

en:accumulation of guanidinoacetate in brain

•

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

•

en:absent/reduced protein s and normal total proteins in heterozygote

•

en:abnormal nuclear morphology

•

en:abnormal n-glycosylation of transferrin

•

en:abnormal liver enzymes (in some patients)

•

en:abnormal electrophoretic mobility of type ii collagen

•

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

•

en:urinary excretion of sialylated oligosaccharides

•

en:decreased neopterin and biopterin in urine

•

en:decreased serum carnitine in acute stage

•

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

•

en:glomerular filtration rate decreased

•

en:hypomethylation of satellite repeats on chromosome 1, 9, and 16

•

en:hypocalciuria or normocalciuria

•

en:hypernatriuria

•

en:hyperhomocystinemia

•

en:hypercholesterolemia (10%)

•

en:hyperbilirubinemia, unconjugated, 20-30mg/dl

•

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

•

en:high plasma citrulline (100-300 micromolar)

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:hepatic argininosuccinase deficiency

•

en:hemoglobin decreased

•

en:hemizygous deletion at 4p16.3

•

en:hawkinsinuria

•

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

•

en:decreased serum vitamin a

•

en:foam cells in bone marrow and renal glomeruli

•

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

•

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

•

en:elevated serum transferrin saturation

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:elevated plasma follicle stimulating hormone (fsh)

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

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

•

en:echocardiogram abnormal

•

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

•

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

•

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

•

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

•

en:decreased triiodothyronine level

•

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

•

en:decreased hdl cholesterol

•

en:5-alpha-reductase-2 enzyme deficiency

•

en:increased serum creatine kinase in acute stage

•

en:low-molecular-weight proteinuria

•

en:liver transaminases normal to slightly increased

•

en:intermittent severe hypoglycemia (in some patients)

•

en:increased urinary sulfatide excretion

•

en:increased urinary neopterin

•

en:increased urinary malic acid

•

en:increased urinary fumaric acid

•

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

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:increased urinary 3-methylglutaconic acid

•

en:increased serum lactate during metabolic crisis

•

en:increased serum iduronate sulfatase

•

en:increased serum alanine

•

en:mean platelet volume (mpv) 12.6fl

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:increased plasma proinsulin

•

en:increased plasma phospholipids

•

en:increased plasma levels of very long-chain fatty acids (vlcfa)

•

en:increased igm level

•

en:increased gamma-interferon

•

en:increased ferritin

•

en:increased csf pyruvic acid

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

en:impaired platelet aggregation

•

en:immunoreactive pc protein

•

en:hypoglycosylated serum transferrin

•

en:hyperlipoproteinemia type i

•

en:hypercholesterolemia (disorder)

•

en:low acth level

•

en:median mean platelet volume (mpv) 18fl

•

en:high sweat sodium and chloride

•

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

•

en:variably increased serum creatine kinase

•

en:vacuolated lymphocytes

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

en:abnormal liver function tests (in some patients)

•

en:thyroid dyshormonogenesis 3

•

en:spongy degeneration of brain on histology

•

en:severely decreased palmitate oxidation

•

en:serum triglycerides normal

•

en:serum transferrin glycosylation is normal

•

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

•

en:reduced iga

•

en:reduced beating amplitudes in cilia

•

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

•

en:postprandial hyperglycemia (early in disease course)

•

en:mildly elevated creatine phosphokinase

•

en:platelet antibody positive

•

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

•

en:patient cells show abnormal mitochondrial morphology

•

en:parathyroid hormone (pth) absent to low

•

en:normal sweat electrolytes

•

en:normal serum phytanic and pristanic acid

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:normal plasma phytanic acid

•

en:normal lysl hydroxylase activity

•

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

•

en:normal concentration of parathyroid hormone

•

en:neutrophilia, both basal and during infections

•

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

•

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

•

en:hypercalciuria (in childhood)

•

en:tryptophanuria

•

en:high nonceruloplasmin-bound serum copper

•

en:decreased activity of ppt1

•

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

•

en:decreased serum factor i (atypical hus)

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

•

en:decreased or absent serum ceruloplasmin

•

en:decreased nk cells (in some patients)

•

en:decreased nasal nitric oxide (in some patients)

•

en:decreased levels of serum vitamin b12

•

en:decreased insulin receptor binding

•

en:decreased eno3 activity

•

en:decreased cortisol-binding globulin

•

en:decreased circulating aldosterone level

•

en:decreased asparagine levels (in some patients)

•

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

•

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

•

en:defect in dna repair

•

en:decreased activity of 2-oxoacid dehydrogenases

•

en:decreased acid beta galactosidase protein and activity

•

en:cytoplasmic lamellar concentric inclusions

•

en:creatine phosphokinase increased

•

en:creatine kinase levels may normalize with disease progression

•

en:coagulopathy (inr = 2.2 - 3.5)

•

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

•

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

•

en:calciuria

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:atrial abnormalities on electrocardiogram

•

en:high m-component

•

en:antithrombin iii decreased

•

en:defective dna repair after ultraviolet radiation damage

•

en:bicarbonaturia

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

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

•

en:direct coombs test negative

•

en:hepatic argininosuccinate synthetase deficiency

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:green urine

•

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

•

en:glycogen storage disease type vii

•

en:gamma-glutamylcysteine deficiency

•

en:frequent deletions of chromosome 9 in melanoma

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:fasting hypoglycemia (early in disease course)

•

en:ethylmalonic aciduria

•

en:elevated urine unsulfated chondroitin sulfate

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

en:elevated urinary hyaluronic acid levels

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:elevated total iron-binding capacity

•

en:elevated alkaline phosphatase (in one patient)

•

en:electrolyturia (1 patient)

•

en:elevated sweat chloride (some)

•

en:dyslipidemia

•

en:elevated 3-methylcitric acid

•

en:elevated acth

•

en:elevated 1,25(oh)2 d3

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:elevated il6

•

en:elevated serum phosphate in heterozygotes

•

en:elevated plasma acth

•

en:elevated sed rate

•

en:elevated erythrocyte aicar (zmp)

•

en:increased serum alanine (1 patient)

•

en:increased interleukin 10

•

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

•

en:increased pristanic acid

•

en:increased serum creatine kinase, mild

•

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

•

en:increased serum growth hormone levels

•

en:increased serum lactate dehydrogenase (ldh)

•

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

•

en:increased urinary 2-methylacetoacetic acid

•

en:increased urinary 2-methylbutyryl glycine

•

en:increased igg level

•

en:igm deficiency

•

en:increased iga level

•

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

•

en:increased erythropoietin

•

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

•

en:impaired response to gm-csf

•

en:hypobetalipoproteinemias

•

en:hyperuricuria

•

en:hypertriglyceridemia (rare)

•

en:hyperprolinemia (5-10 times normal)

•

en:hypermethioninemia, progressive

•

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

•

en:hyperchloremia (mean 111 mm)

•

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

•

en:homocystinemia

•

en:hypercalciuria (in some patients)

•

en:myopathy with type i fiber atrophy on muscle biopsy

•

en:increased urinary hypoxanthine

•

en:normal b12

•

en:plasma catecholamines decreased

•

en:high ornithine

•

en:plasmalogen deficiency

•

en:phosphorylase kinase normal in muscle

•

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

•

en:parathyroid hormone level increased

•

en:organic aciduria, mild (in some patients)

•

en:no increased sensitivity to oxidative species

•

en:no hematuria

•

en:normal urinary orotic acid

•

en:normal serum erythropoietin (epo, 133170)

•

en:normal serum cobalamin

•

en:normal prolyl 4-hydroxylase activity

•

en:normal aldosterone

•

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

•

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

•

en:mild elevation of transaminases

•

en:microtubule disorganization in some cilia

•

en:metabolic acidosis

•

en:low serum levels of branched-chain amino acids

•

en:low plasma hdl

•

en:low maximal oxygen uptake on exercise testing

•

en:low leukocyte alkaline phosphatase activity

•

en:loss of ciliary beat coordination

•

en:keratan sulfaturia in some patients

•

en:intermediate level of cellular sensitivity to uv light

•

en:increased urinary vanillylmandelic acid (vma)

•

en:increased urinary phospholipids

•

en:high serum guanosine levels

•

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

•

en:glyoxalase deficiency

•

en:carnitine palmitoyltransferase i deficiency (fibroblast, liver, leukocytes)

•

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

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

en:decreased mitochondrial nadp(h)

•

en:decreased methionine synthase activity

•

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

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:decreased csf hypocretin

•

en:decreased blood levels of cationic amino acids

•

en:decreased adiponectin

•

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

•

en:coombs positive hemolytic anemia

•

en:chromosomal rearrangement

•

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

•

en:decreased or normal serum factor i

•

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

•

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

•

en:anti-iga antibodies commonly present

•

en:abnormal serum transferrin pattern (in some patients)

•

en:abnormal liver enzymes, intermittent (1 patient)

•

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

•

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

•

en:abnormal igfr1 function

•

en:abnormal cholesterol homeostasis

•

en:abnormal cardiolipin subspecies composition

•

en:5-hiaa csf may be normal or decreased

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:presence of pc mrna

•

en:decreased or absent serum citrulline

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:glycosuria

•

en:elevated pth (parathyroid hormone)

•

en:glycogen storage disease type vi

•

en:glutaric aciduria

•

en:generalized amyloid deposition

•

en:folate-dependent fragile site at xq28

•

en:fluorescence of red blood cells by uv microscopy

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:fibroblasts attach poorly

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

en:farber lipogranulomatosis

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:elevated urinary 3-methylglutaconate

•

en:elevated serum transaminases during infections

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:elevated pregnenolone

•

en:decreased renal calcium excretion

•

en:elevated plasma insulin

•

en:elevated mchc

•

en:elevated il1-beta

•

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

•

en:elevated calcitonin

•

en:elevated 8-dehydrocholesterol

•

en:elevated 3-hydroxypropionic acid

•

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

•

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

•

en:deficiency of creatine phosphate in brain

•

en:decreased tissue and serum alkaline phosphatase

•

en:decreased thrombospondin

•

en:decreased serum luteinizing hormone (lh)

•

en:positive kveim-siltzbach skin test

•

en:elevated liver enzymes

•

en:pyrimidinuria

•

en:increased urine oligosaccharides

•

en:neutropenia

•

en:neonatal hyperbilirubinemia

•

en:n-glycosylation defect

•

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

•

en:mild to moderate hyperammonemia

•

en:methioninuria

•

en:markedly reduced igg levels

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:lactic acidemia

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:interstitial or terminal deletion of 18q

•

en:intermittent 3-methylglutaconic aciduria

•

en:increased urinary succinic acid

•

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

•

en:increased urinary s-sulfocysteine

•

en:increased urinary hydroxyisovaleric acid

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased urinary carnitine esters

•

en:increased urinary 2-oxoglutaric acid

•

en:increased uracil and dihydrouracil in bodily fluids

•

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

•

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

•

en:increased serum and urinary 2-oxoglutarate

•

en:increased serum acylcarnitine during febrile crisis

•

en:increased histidine in blood, urine, and csf

•

en:increased free cyanocobalamin in fibroblasts

•

en:increased bone serum acid phosphatase

•

en:normal csf 5-hiaa

•

en:normal lysyl hydroxylase activity

•

en:hypertriglyceridemia

•

en:serum homocysteine normal

•

en:reduced total and free carnitine in plasma and tissue

•

en:vitamin k deficiency

•

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

•

en:urine odor, maple syrup

•

en:urine cortisol, increased

•

en:uric acid normal

•

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

•

en:tyrosinemia

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:transient neonatal hypocalcemia (2p21del)

•

en:slightly increased serum alkaline phosphatase may occur

•

en:serum thyroxine may be decreased or normal

•

en:serum gastrin increased

•

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

•

en:serum ferritin hyperglycosylation

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:reduced unsaturated serum cobalamin binding capacity

•

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

•

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

•

en:platelet glycoprotein iiia deficiency

•

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

•

en:pipecolic acid accumulation.

•

en:pancreatic trypsinogen deficiency

•

en:no mucopolysacchariduria

•

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

•

en:normal serum biotin concentration

•

en:normal plasma total homocysteine

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:normal axonal flare response after intradermal histamine injection

•

en:hyperthreoninemia

•

en:variable hypoglycemia

•

en:cholesterol normal

•

en:blood pyruvic acid increased

•

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

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

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

•

en:absent igg2 subclass

•

en:absent axonal flare response to intradermal histamine injection

•

en:absence of peroxidase staining in neutrophils and monocytes

•

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

•

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

•

en:abnormal liver enzymes (1 patient)

•

en:abetalipoproteinemia (lab finding)

•

en:laboratory abnormalities

•

en:variable defects of inner dynein arms

•

en:csf pleocytosis, particularly of lymphocytes

•

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

•

en:tyrosinemia (transient, resolves in infancy)

•

en:tsh decreased

•

en:thyroid hormones increased

•

en:sterol 27-hydroxylase deficiency

•

en:smooth muscle antibodies positive

•

en:sialylation defects

•

en:shortened metaphase

•

en:serum testosterone decreased

•

en:serum creatine kinase may be normal or elevated

•

en:serum cortisol elevated

•

en:hyperlactemia

•

en:serum chloride level decreased (finding)

•

en:chondroitin 6-sulfate excretion in urine

•

en:abnormal extrarenal response to ddavp (no increase in von willebrand factor or factor viii)

•

en:decreased activity of dihydrofolate reductase

•

en:elevated dihydrobiopterin in csf

•

en:hyperinsulinemia

•

en:hyperbilirubinemia, non-hemolytic unconjugated (may rise with fasting or dehydration)

•

en:high serum inosine levels

•

en:hereditary fructose intolerance

•

en:hereditary angioedema

•

en:hematuria (less common)

•

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

•

en:fibrinogen decreased

•

en:fasting chylomicronemia

•

en:elevated serum iron and iron binding capacity

•

en:elevated plasma levels of lp(a)

•

en:elevated plasma galactose (galactosemia)

•

en:elevated fecal levels of protoporphyrin and coproporphyrin at all times

•

en:hypercholesterolemia (reported in 2 patients)

•

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

•

en:decreased serum alpha-2 macroglobulin levels

•

en:electrocardiogram abnormal

•

en:decreased circulating renin level

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:decreased levels of certain coagulation factors

•

en:decreased activity of triosephosphate isomerase

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased serum l-transferrin (heterozygous patient)

•

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

•

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

•

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

•

en:diffuse deposition of calcium oxalate in various tissues

•

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

•

en:increased serum direct bilirubin

•

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

•

en:increased serum ferritin

•

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

•

en:increased urinary magnesium

•

en:increased urinary 2-hydroxybutyrate

•

en:increased urinary 3-methylcrotonylglycine

•

en:increased urinary citric acid cycle intermediates

•

en:increased urinary glutaric acid

•

en:increased plasma proglucagon

•

en:indirect bilirubin increased

•

en:increased renal tubular phosphate reabsorption

•

en:increased csf protein during acute illness

•

en:increased plasma homogentisic acid (hga)

•

en:increased plasma free cholesterol

•

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

•

en:increased hepatic parenchymal cell stainable iron

•

en:increased fibroblast free sialic acid

•

en:increased csf lactate during acute episodes

•

en:increased csf immunoglobulin levels

•

en:immunoglobulin a decreased

•

en:hypoxemia

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:hypophosphatemia (less common)

•

en:hypokalemia occurs during paralytic attacks

•

en:hypokalemia during attacks

•

en:intermittent increase of urinary ethylmalonic acid

•

en:infantile hypophosphatasia

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

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

•

en:hypoglycemia, fasting

•

en:presence of cytochrome b(-245)

•

en:positive urine dnph screening test

•

en:polycythemia

•

en:platelet aggregation decreased

•

en:phospholipid antibody positive

•

en:normal urinary 17-ketosteroids

•

en:normal total urinary coproporphyrin

•

en:normal sweat chloride (3 of 3 patients)

•

en:normal maltase, isomaltase, and sucrase activity

•

en:normal isoelectric focusing of serum transferrin

•

en:neutral hyperaminoaciduria

•

en:nadh-cytochrome b(5) reductase deficiency

•

en:myoglobinuria (reported in 1 patient)

•

en:lack of excessive parenchymal iron storage

•

en:myoglobinuria

•

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

•

en:monoclonal gammopathy

•

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

•

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

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

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

•

en:low urinary orotic acid

•

en:low serum magnesium

•

en:low procollagen 1 c-peptide (in some patients)

•

en:low or normal serum calcium

•

en:low growth hormone levels

•

en:leukotriene c4 synthetase deficiency

•

en:hypoglycorrhachia (low glucose in csf)

•

en:abnormal liver function test

•

en:hypocitraturia

•

en:decreased activity of tyrosine hydroxylase

•

en:decreased natural killer cells

•

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

•

en:decreased intracellular fmr protein

•

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

•

en:decreased dermal hydroxylysine content

•

en:decreased csf glycine

•

en:decreased cpt1 activity

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased clot retraction

•

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

•

en:decreased c3 activity

•

en:decreased beta-galactosidase activity

•

en:decreased antithrombin iii (rare)

•

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

•

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

•

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

•

en:creatine decreased

•

en:chromosome 11q23.3 deletion

•

en:cholesterol low

•

en:biotinidase deficiency

•

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

•

en:albuminuria

•

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

•

en:absence of outer dynein arms

•

en:absence of chylomicrons in lymph and plasma

•

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

•

en:serum c-peptide and glucagon levels measurable

•

en:abnormal dystrophin on muscle biopsy

•

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

•

en:decreased or normal serum c3

•

en:hypercalciuria

•

en:elevated sweat chloride

•

en:hyperbilirubinemia

•

en:homocysteinemia

•

en:high urinary copper

•

en:heparan sulfate excretion in urine

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:gonadotrophin increased

•

en:fragmentation of the mitochondrial network

•

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

•

en:ferritin decreased

•

en:factor viii deficiency

•

en:exercise-induced myoglobinuria in adults

•

en:euvolemia

•

en:elevated testosterone

•

en:elevated serum levels of adenosine

•

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

•

en:elevated serum bile acids

•

en:elevated sepiapterin in csf

•

en:elevated plasma propionylcarnitine

•

en:elevated plasma desmosterol

•

en:elevated levels of vitamin b12

•

en:elevated hcg (choriocarcinoma)

•

en:elevated free carnitine

•

en:elevated cerebrospinal fluid (csf) protein

•

en:dyskinetic ciliary motility

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:defective dna repair

•

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

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:decreased axonal flare response after intradermal histamine injection

•

en:severely decreased activity of beta-1,4-mannosyltransferase (less than 10% of normal)

•

en:ketoacidosis

•

en:normal baseline cortisol

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:nephrotic syndrome

•

en:monomeric igm

•

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

•

en:metachromasia of white blood cells and fibroblasts

•

en:medium chain dicarboxylic aciduria

•

en:low serum calcium

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:low or low-normal serum t4

•

en:low apolipoprotein

•

en:ketonuria

•

en:iron overload (in some patients)

•

en:normal igg levels

•

en:iodide organification defect

•

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

•

en:increased urinary taurine

•

en:increased urinary oxylate

•

en:increased uric acid with exercise

•

en:increased total bilirubin may occur

•

en:increased serum triglycerides (in some patients)

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:increased serum lactate, particularly after exercise

•

en:increased serum ige

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased serum butyryl carnitine

•

en:increased serum bilirubin (in some patients)

•

en:normal exocrine pancreatic function

•

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

•

en:increased plasma pipecolic acid

•

en:proteinuria

•

en:variable hyperlipidemia

•

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

•

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

•

en:upregulation of alpha-interferon-stimulated genes

•

en:undetectable serum l-transferrin (homozygous patient)

•

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

•

en:shortened telomeres (in 1 of 2 patients)

•

en:shortened telomeres (1 patient)

•

en:serum mitochondrial autoantibodies

•

en:serum bilirubin increased

•

en:reticulocytosis

•

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

•

en:pyruvate-induced insulin secretion

•

en:proper antibody response to protein vaccinations

•

en:normal pyridinoline excretion in urine

•

en:primary immunoglobulin-related amyloidosis (al)

•

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

•

en:pink urine

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

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

•

en:patient cells show increased chromosome breakage

•

en:partial deficiency of factor xii(c)

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

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

•

en:no evidence of common prenatal infections

•

en:no c8 antigen detected

•

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

•

en:normal serum folate levels

•

en:increased prv-1 (162860) mrna

•

en:organic aciduria

•

en:increased plasma branched-chain fatty acids

•

en:aminoaciduria (1 patient)

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased serum and muscle coenzyme q

•

en:decreased plasma gonadotrophin

•

en:decreased plasma apolipoprotein b (apob, 107730)

•

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

•

en:decreased glutamine in bodily fluids

•

en:decreased galactokinase activity

•

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

•

en:chronic hypoxemia

•

en:cerebrospinal fluid lymphocytosis

•

en:bleeding time normal

•

en:bilirubin may or may not be increased

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:alpha ketoadipic aciduria

•

en:decreased thyroxine level

•

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

•

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

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

en:abnormal oral glucose tolerance

•

en:abnormal karyotype in 3 patients involving distal 6p

•

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

•

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

•

en:abacterial leukocyturia

•

en:4-hydroxyphenylpyruvic aciduria

•

en:3-methylglutaric aciduria

•

en:vitamin d deficiency

•

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

•

en:increased plasma 2-methylbutyrylcarnitine

•

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

•

en:adrenocorticotropic hormone, increased

•

en:deletion of chromosome 18p11.2

•

en:hyperchloridura

•

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

•

en:disseminated intravascular coagulation

•

en:increased lactate in spinal fluid

•

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

•

en:increased cholesterol

•

en:impaired o-glycosylation

•

en:hyponatremic dehydration, rarely

•

en:hypomagnesemia

•

en:hypocholesterolemia

•

en:hypoalphalipoproteinemia

•

en:hypertryptophanemia

•

en:hyperprolinemia type 1

•

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

•

en:hypokalemia

•

en:hyperalphalipoproteinemia

•

en:galactosuria

•

en:elevated 2-ketoglutarate (urine)

•

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

•

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

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:duplication or deletion at 11p15.5

•

en:fibronectin decreased

•

en:glutathione deficiency

•

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

•

en:granular osmiophilic deposits (grod) in cells

•

en:hepatic gamma-cystathionase deficiency

•

en:hepatic lipase deficiency (disorder)

•

en:high plasma asparagine

•

en:hla-dqw6 association (dqb1*0602)

•

en:homocystinuria

•

en:hypernatremia

•

en:hyperprolinemia (10-15 times normal)

•

en:hypoglycemia, intermittent

•

en:inappropriately low urine osmolality

•

en:increased 18-ohb to aldosterone ratio

•

en:increased erythrocyte sedimentation rate, episodic

•

en:increased creatine kinase (ck)

•

en:increased csf and plasma gaba

•

en:increased csf glycine

•

en:increased csf interferon

•

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

•

en:increased serum citrulline (group b)

•

en:increased serum, urinary, and csf lysine

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:high sister chromatid exchange (sce) rate

•

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

•

en:gm2-ganglioside accumulation

•

en:elevated fasting triglycerides

•

en:increased serum serotonin in 25%

•

en:decreased tissue total and free carnitine

•

en:decreased udp-glcnac

•

en:defective mitochondrial respiratory enzyme activity

•

en:deficient plasma alpha-lecithin:cholesterol acyltransferase (high-density) activity

•

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

•

en:elevated androstenedione and testosterone

•

en:elevated hepatic transaminases

•

en:glucosidase i deficiency in liver and fibroblasts

•

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

•

en:elevated serum long-chain fatty acids

•

en:elevated urinary delta-aminolevulinic acid

•

en:elevated urinary pge(2) levels

•

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

•

en:erythrocyte porphobilinogen (pbg) deaminase deficiency (exception: type ii aip)

•

en:excessive iodide trapping

•

en:increased serum pyruvate in acute stage

•

en:serum calcium elevated

•

en:increased transferrin saturation (>60%)

•

en:serum aldosterone elevated

•

en:paraproteinemia

•

en:pms show deficient oxidation of debrisoquine

•

en:prolonged partial thromboplastin time (ptt)

•

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

•

en:pt normal

•

en:renin decreased

•

en:round, yellow-brown dha urine crystals

•

en:serum c-reactive protein may be increased

•

en:no lactic acidosis

•

en:serum creatine kinase 20-70 times normal

•

en:severe amyloid angiopathy

•

en:some cilia show abnormal beating patterns or immotility

•

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

•

en:telomere shortening

•

en:ten percent of cases are secondary to submicroscopic deletions of 16p13.3 detectable by fish

•

en:transient hyperlipidemia

•

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

•

en:normal serum transferrin profiles

•

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

•

en:low to low-normal magnesium

•

en:increased urinary excretion of cystine

•

en:ketonuria (1 patient)

•

en:lack of ciliary motility

•

en:low-to-normal platelet count

•

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

•

en:low plasma arginine

•

en:low serum levels of ketone bodies

•

en:lysyl hydroxylase deficiency

•

en:normal eosinophil peroxidase activity

•

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

•

en:methylglutaconic aciduria, mild

•

en:mild-moderate prolonged bleeding time

•

en:mildly increased serum lactate

•

en:molybdenum cofactor deficiency

•

en:myoglobinuria after exertion

•

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

•

en:decreased telomere length in lymphocytes

◀

Génériques

[F] [H]

›

en:decreased

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846489 • caches: c1=16 c2=1604 c3=600

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