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

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

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le dictionnaire d'associations lexicales
contributif et libre de JeuxDeMots

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

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

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

•

en:microtubule disorganization in some cilia

•

en:pms show deficient oxidation of debrisoquine

•

•

en:cell studies show increased dna breakage

•

en:dhea sulfotransferase below limit of detection

•

en:elevated plasma luteinizing hormone (lh)

•

en:elevated serum bile acids

•

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

•

en:hyperprostaglandinuria

•

en:inappropriately increased urine osmolality

•

en:increased 18-oxocortisol

•

en:increased fibroblast free sialic acid

•

en:increased urinary oligosaccharides

•

en:increased di- and asialo-transferrin

•

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

•

en:decreased serum c3 (atypical hus)

•

en:normal axonal flare response after intradermal histamine injection

•

en:metachromasia of white blood cells and fibroblasts

•

en:hematuria (less common)

•

en:nonketotic hypoglycemia

•

en:elevated progesterone

•

en:glycoamino aciduria

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:decreased hepatic udp-glucuronyl-transferase activity

•

en:decreased cortisol-binding globulin

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

en:shortened telomeres (classic feature, nola3 patient)

•

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

•

en:decreased blood levels of cationic amino acids

•

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

•

en:glutaric aciduria

•

en:homocystinuria (in some patients)

•

en:increased interleukin 10

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

en:myoglobinuria

•

en:increased plasma creatine

•

en:secondary decrease of plasma free carnitine

•

en:decreased adenosylcobalamin

•

en:decreased levels of plasma vwf antigen

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:dermatan sulfate excretion in urine

•

en:high m-component

•

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

•

en:serum folate low

•

en:acute hyperammonemia

•

en:increased plasma proglucagon

•

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

•

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

•

en:increased urinary prostaglandin e2

•

en:increased urinary hypoxanthine

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

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

•

en:high urinary orotic acid

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

en:diverse tissue cell types (vascular endothelial cells, adipocytes, schwann cells, leukocytes) have membrane-lined cytoplasmic vacuoles with amorphous and filamentous material

•

en:decreased csf folate

•

en:antiribonuclear protein positive

•

en:normal endocrinologic studies (growth hormone, somatomedin c, thyroid function)

•

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

•

en:recurring t(11,14) and t(14,19)(q32,q13.1) translocations

•

en:elevated 2-ketoglutarate (urine)

•

en:high serum inosine levels

•

en:smooth muscle antibodies positive

•

en:elevated urinary delta-aminolevulinic acid

•

en:elevated plasma phytanic acid

•

en:hepatic argininosuccinate synthetase deficiency

•

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

•

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

•

en:cerebrospinal fluid lymphocytosis

•

en:very low iga

•

en:tyrosinemia (transient, resolves in infancy)

•

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

•

en:transaminitis

•

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

•

en:elevated plasma desmosterol

•

en:glycogen storage disease type vi

•

en:high plasma triglyceride levels

•

en:increased urinary citric acid cycle intermediates

•

en:low serum magnesium

•

en:normal plasma renin

•

en:prominent leukocytosis (30,000/ml)

•

en:uric acid normal

•

en:decreased serum 18-ohb

•

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

•

en:elevated plasma methionine (methioninemia)

•

en:increased csf, plasma, and urinary 3-ortho-methyldopa (3-omd)

•

en:increased serum ferritin (in some patients)

•

en:increased urinary creatine

•

en:low density lipoprotein increased

•

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

•

en:normal serum cobalamin (vitamin b12)

•

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

•

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

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

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

•

en:protein c decreased

•

en:abnormal nuclear morphology

•

en:increased serum alpha-mannosidase

•

en:hypercalciuria

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

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

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:decreased agt activity

•

en:decreased adiponectin

•

en:decreased erythrocyte plasmalogen

•

en:increased free cyanocobalamin in fibroblasts

•

en:normal isoelectric focusing of apolipoprotein ciii

•

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

•

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

•

en:variable respiratory chain enzyme deficiency

•

en:increased biliverdin in bodily fluids

•

en:hypoprebetalipoproteinemia

•

en:hemoglobin f increased

•

en:elevated serum parathyroid hormone (pth)

•

en:decreased transferrin increased serum iron

•

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

•

en:immotile or weakly motile cilia

•

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

•

en:3-methylglutaconic aciduria (3-mgc)

•

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

•

en:decreased nasal nitric oxide (in some patients)

•

en:decreased or absent ciliary motility

•

en:echocardiogram abnormal

•

en:elevated serum transferrin saturation

•

en:holocarboxylase synthetase deficiency

•

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

•

en:normal to elevated total plasma carnitine

•

en:increased serum methionine

•

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

•

en:increased urinary acetoacetic acid

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:decreased fumarate hydratase activity

•

en:serum ferritin hyperglycosylation

•

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

•

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

•

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

•

en:2-aminoadipic aciduria

•

en:serum lactate may be increased during encephalopathic exacerbations

•

en:abnormal phospholipid profile

•

en:elevated 7-dehydrocholesterol

•

en:elevated plasma propionylcarnitine

•

en:increased igg level

•

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

•

en:increased total and conjugated bilirubin

•

en:increased urinary sialylglycopeptides

•

en:median mean platelet volume (mpv) 20fl

•

en:normal red cell counts

•

en:hypomethioninemia

•

en:continuous urinary iodine loss

•

en:increased urinary sulfatide excretion

•

en:increased urinary thymine

•

en:low plasma arginine

•

en:low to low-normal magnesium

•

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

•

en:myoglobinuria after exertion

•

en:increased uric acid with exercise

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:serum carnitine deficiency

•

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

•

en:hypocalcemia, transient

•

en:intermediate level of cellular sensitivity to uv light

•

en:increased urinary lactate

•

en:increased urinary 3-methylcrotonylglycine

•

en:increased tissue long-chain acylcarnitines

•

en:aneuploidy of the x chromosome

•

en:hypercholesterolemia (10%)

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:frequent inv(10)(q11.2q21) producing chimeric transforming sequence ret/ptc

•

en:decreased hdl cholesterol

•

en:cilia show inner and outer dynein arm defects

•

en:normal lysyl oxidase activity

•

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

•

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:hydrocortisone decreased

•

en:tay-sachs disease

•

en:normal serum phytanic and pristanic acid

•

en:increased serum thyrotropin

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:low serum alpha-fetoprotein (recessive)

•

en:elevated hepatic transaminases

•

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

•

en:decreased circulating aldosterone level

•

en:bleeding time normal

•

en:abnormal serum lipoprotein levels (in 3 of 10 patients)

•

en:vitamin d deficiency

•

en:liver phosphorylase kinase (phk) deficiency

•

en:intracellular accumulation of unesterified cholesterol

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

•

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

•

en:low copper and ceruloplasmin

•

en:long-chain dicarboxylic aciduria

•

en:low cd4+ count

•

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

•

en:low leukocyte alkaline phosphatase activity

•

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

•

en:increased urinary sulfite

•

en:hypogammaglobulinemia (in some patients)

•

en:increased renal tubular phosphate reabsorption

•

en:increased urinary phospholipids

•

en:increased urinary glycosphingolipids, particularly globotriaosylceramide

•

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

•

en:increased urinary dihydropyrimidines

•

en:increased serum ferritin

•

en:increased serum and csf lactate

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

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

•

en:increased il18

•

en:increased csf protein during acute illness

•

en:increased csf lactate during acute episodes

•

en:increased csf and plasma ghb

•

en:i-cell disease

•

en:median mean platelet volume (mpv) 12.5fl

•

en:may have increased serum parathyroid hormone (pth)

•

en:systemic amyloidosis may occur

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

en:skewed x-inactivation in females

•

en:adrenocorticotropic hormone, increased

•

en:absent or severely reduced levels of serum immunoglobulins

•

en:absence of peroxidase staining in neutrophils and monocytes

•

en:abnormal liver function tests (sgot, sgpt)

•

en:abnormal eeg in 25% hospitalized patients

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:variegated translocation mosaicism in cultured fibroblasts

•

en:transient neonatal hypoglycemia (2p21del)

•

en:thyroid dyshormonogenesis 4

•

en:thymic hormone decreased

•

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

•

en:hyperhomocystinemia

•

en:submucosal macrophages filled with sphingolipids

•

en:serum ammonia increased

•

en:normal aldosterone

•

en:serum alkaline phosphatase normal or mildly increased

•

en:saccharopine dehydrogenase deficiency

•

en:pyrimidinuria

•

en:protein urine absent

•

en:propionic acidemia

•

en:pipecolic acidemia

•

en:phosphorylase kinase normal in muscle

•

en:pentagastrin stimulation test

•

en:panhypogammaglobulinemia

•

en:p5c levels increased in urine

•

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

•

en:normal sedimentation rate

•

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

•

•

en:hyperoxalaemia

•

en:elevated hcg (choriocarcinoma)

•

en:hyperglycemia

•

en:decreased beta-glucosidase protein and activity

•

en:decreased plasma zinc levels

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

en:decreased or absent steroid sulfatase activity

•

en:decreased or absent serum ceruloplasmin

•

en:decreased or absent dihydropteridine reductase activity

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:decreased mitochondrial complex iii activity in muscle

•

en:decreased long-chain fatty acid oxidation

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased insulin receptor binding

•

en:decreased fibrinogen (in some patients)

•

en:decreased csf homovanillic acid (hva)

•

en:decreased complement factor d

•

en:decreased aminoacylase-1 activity

•

en:decreased s-ado:saicar ratio

•

en:decreased activity of mitochondrial respiratory complexes

•

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

•

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

•

en:chromosomal rearrangement

•

en:cholesterol low

•

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

•

en:blood urea nitrogen increased

•

en:azoospermia/oligospermia (present at diagnosis)

•

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

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

en:absence of chylomicrons in lymph and plasma

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:argininosuccinic aciduria

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

•

en:decreased serum cholesterol (in some)

•

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

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:high plasma citrulline (100-300 micromolar)

•

en:high ornithine

•

en:hemophilia b

•

en:hemizygous deletion at 4p16.3

•

en:hawkinsinuria

•

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

•

•

en:glomerular filtration rate decreased

•

en:gaucher disease, type 1

•

en:fibroblasts show decreased mitochondrial complex v activity

•

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

•

en:fasting hyperinsulinemia

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:decreased serum complement factor h

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated plasma follicle stimulating hormone (fsh)

•

en:elevated free carnitine

•

en:elevated cerebrospinal fluid (csf) protein

•

en:elevated calcitonin

•

en:elevated afp (endodermal sinus tumor)

•

en:elevated 3-hydroxypropionic acid

•

en:elevated 17-hydroxyprogesterone

•

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

•

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

•

en:defect in n- and o-glycosylation

•

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

•

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

•

en:decreased testosterone level

•

en:aminoaciduria, intermittent

•

en:elevated total bilirubin

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:low-molecular-weight proteinuria

•

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

•

en:mitochondrial malic enzyme reduced

•

en:methylmalonic aciduria

•

en:methemoglobin concentration 12 to 19%

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

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

•

en:low or low-normal serum t4

•

en:low or absent iga levels

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:low level of c4 and c2

•

en:low ldl cholesterol

•

en:low apolipoprotein

•

en:low acth level

•

en:liver function tests normal

•

en:normal free urinary cortisol

•

en:lactic acidemia

•

en:keratan sulfate excretion in urine that decreases with age

•

en:karyomegaly may be found in other visceral organs

•

en:isovaleric acidemia

•

en:incresased urinary pyruvate

•

en:increased urinary succinic acid

•

en:increased urinary o-linked sialopeptides

•

en:increased urinary isobutyryl glycine

•

en:increased urinary carnitine esters

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:increased serum lactate, particularly after exercise

•

en:increased serum deoxyuridine

•

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

•

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

•

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

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:proteinuria in those with cystic kidneys

•

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

•

en:variably increased serum creatine kinase

•

en:transient hyperlipidemia

•

en:telomere shortening

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:serum prolactin increased

•

en:serum lactate is usually normal

•

en:serum creatine kinase may be normal

•

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

•

en:serum aldosterone elevated

•

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

•

en:raised c-reactive protein

•

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

•

•

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

•

en:prolonged partial thromboplastin time (ptt)

•

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

•

en:postprandial hyperglycemia (early in disease course)

•

en:platelet glycoprotein iiia deficiency

•

en:plasma protein c deficiency

•

en:plasma aldosterone increased

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:partial deficiency of factor xii(c)

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

en:no lactic acidosis

•

en:no c8 antigen detected

•

en:normal serum folate levels

•

en:normal renin level

•

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

•

en:increased serum and csf glycine

•

en:serum testosterone level normal

•

en:increased prevalence among the native american lumbee indians

•

en:defective dna repair after ultraviolet radiation damage

•

en:elevated fasting triglycerides

•

en:elevated dihydrobiopterin in csf

•

en:elevated csf/plasma glycine ratio

•

en:elevated biopterin in csf

•

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

•

en:elevated alkaline phosphatase

•

en:elevated 8(9)-cholestenol

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:diffuse deposition of calcium oxalate in various tissues

•

•

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

•

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

•

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

•

en:decrease plasma serine (fasting)

•

en:elevated plasma citrulline (citrullinemia)

•

en:decreased uros activity (1 patient)

•

en:decreased thyroxine level

•

en:decreased serum factor i (atypical hus)

•

en:decreased scad activity

•

en:decreased plasma triglycerides

•

en:decreased levels of the e2 subunit protein

•

en:decreased levels of cpt2 protein

•

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

•

en:decreased high molecular weight plasma factor viii/ vwf multimers

•

en:decreased factor xi

•

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

•

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

•

en:increased plasma vldl, ldl

•

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

•

en:elevated fibroblast free sialic acid

•

en:decreased dermal hydroxylysine content

•

en:elevated prothrombin time

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:elevated pyruvate (in most patients)

•

en:increased plasma lactate

•

en:increased igm level

•

en:increased csf protein

•

en:increased 18-ohb to aldosterone ratio

•

en:inappropriately low urine osmolality

•

en:hypoproteinemia (in 1 patient)

•

en:hypoglycosylated serum transferrin

•

en:hypocalcemia (64% of adults)

•

en:hypertriglyceridemia

•

en:hyperthreoninemia

•

en:hyperphosphatemia

•

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

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:hyperglutaminemia

•

en:galactosuria

•

en:hypercalcemia

•

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

•

en:exercise-induced myoglobinuria

•

en:foam cells in visceral organs and cns

•

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

•

en:excessive iodide trapping

•

en:generalized aminoaciduria

•

en:high sweat sodium and chloride

•

en:homocysteinemia (in some patients)

•

en:homozygous 122kb deletion 11p15-p14

•

en:hepatic lipase deficiency (disorder)

•

en:hyperalphalipoproteinemia

•

en:methionine adenosyltransferase deficiency

•

en:low plasma hdl

•

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

•

en:lysosomal-like storage vacuoles in various tissues

•

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

•

en:methylsuccinic aciduria

•

en:methylmalonic acidemia

•

en:methylmalonic aciduria, mild

•

en:mildly elevated blood ammonia

•

en:mild elevation of transaminases

•

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

•

en:nadh-cytochrome b(5) reductase deficiency

•

en:lower total cholesterol

•

en:increased urinary creatine-to-creatinine ratio

•

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

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

en:lack of excessive parenchymal iron storage

•

en:ketonuria, acute

•

en:increased urinary formiminoglutamic acid (figlu)

•

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

•

en:increased tissue levels of free fatty acids

•

en:increased serum s-adenosylmethionine

•

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

•

en:increased serum pyruvate, mild

•

en:increased serum lactate (patient a)

•

en:increased serum direct bilirubin

•

en:increased serum creatine kinase, mild

•

en:normal blood lactate

•

en:serum triglycerides increased

•

en:normal complex ii activity

•

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

•

•

en:increased pyruvate in serum and csf

•

en:absence of hepatic udp-glucuronyl-transferase

•

en:absence of cpt ii protein

•

en:abnormal transaminases (1 patient)

•

en:abnormal liver enzymes, intermittent

•

en:4-hydroxyphenylpyruvic aciduria

•

en:laboratory abnormalities

•

en:variable hypoglycemia

•

en:variable defects of inner dynein arms

•

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

•

en:unresponsive to acth stimulation

•

en:sterol 27-hydroxylase deficiency

•

en:normal liver histology

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:sialylation defects

•

en:serum transaminase increased

•

en:serum prolactin decreased

•

en:serum phosphate normal

•

en:serum creatine kinase may be increased

•

en:proteinuria (type ii, congenital)

•

en:prolonged prothrombin and partial thromboplastin times

•

en:positive urine dnph screening test

•

en:organic aciduria, mild (in some patients)

•

en:no cartilage staining with toluidine blue

•

en:normal transferrin saturation

•

en:normal maltase, isomaltase, and sucrase activity

•

en:increased serum arylsulfatase a.

•

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

•

en:increased plasma phytanic acid

•

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

•

en:decreased tetrasialo-transferrin

•

en:decreased serum luteinizing hormone (lh)

•

en:decreased serum haptoglobin

•

en:decreased serum ferritin

•

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

•

en:decreased free t(3)/free t(4)

•

en:decreased csf methyltetrahydrofolate (mthf)

•

en:decreased cpt1 activity

•

en:decreased copper, iron, zinc

•

en:decreased antithrombin iii (rare)

•

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

•

en:decreased activity of galactocerebrosidase

•

en:contiguous gene deletion syndrome

•

en:deficiency of creatine phosphate in brain

•

en:b lymphocytopenia

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

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

•

en:agammaglobulinemia

•

en:absent platelet agglutination in presence of ristocetin

•

en:abnormal serum liver enzyme levels

•

en:abnormal liver function tests (less common)

•

en:abnormal liver function test

•

en:abnormal igfr1 function

•

en:abnormal dystrophin on muscle biopsy

•

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

•

en:antineutrophil antibody positivity

•

en:defective glcnac-pi synthesis

•

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

•

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

•

en:hyperglycinemia

•

en:increased csf taurine

•

en:increased creatine kinase, mild to moderate

•

en:increased chromosomal breakage

•

en:increased 11-deoxycorticosterone

•

en:impaired response to gm-csf

•

en:impaired oxidation of pyruvate

•

en:iga antiendomysial antibodies (ema)

•

en:hypoglycorrhachia (low glucose in csf)

•

en:hypogammaglobulinemia

•

en:hypocalciuria or normocalciuria

•

en:hyperuricemia

•

en:hyperlipidemia

•

en:homocysteinemia

•

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

•

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

•

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

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

en:fluorescence of red blood cells by uv microscopy

•

en:farber lipogranulomatosis

•

en:elevated serum lactate

•

en:elevated pth (parathyroid hormone)

•

en:elevated pregnenolone

•

en:elevated plasma cholestanol

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:elevated erythrocyte adenosine deaminase activity

•

en:electrolyte disturbances from intractable diarrhea

•

en:dicarboxylic aciduria

•

en:acylglycinuria

•

en:increased serum creatine kinase in acute stage

•

en:aspartylglycosaminuria

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:n-glycosylation defect

•

en:mucopolysaccharidosis type iiid

•

en:mitochondrial complex i deficiency in muscle

•

en:mild hyperammonemia

•

en:mildly elevated acth

•

en:median mean platelet volume (mpv) 18fl

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:low or normal serum erythropoietin

•

en:low free carnitine

•

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

•

en:lack of ciliary motility

•

•

en:increased urinary neopterin

•

en:normal lactate (hcs)

•

en:increased urinary malic acid

•

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

•

en:increased urinary dicarboxylic acid, transient

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:increased urinary 7-biopterin (primapterin)

•

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

•

en:increased transferrin saturation (>60%)

•

en:increased serum triglycerides (in some patients)

•

en:increased serum lactate during metabolic crisis

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased serum beta-hexosaminidase

•

en:increased serum ammonia (group b)

•

en:normal igg levels

•

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

•

en:increased csf glycine

•

en:serum bilirubin increased

•

en:bilirubin may or may not be increased

•

en:vitamin k deficiency

•

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

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

en:undetectable plasma dbh activity

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:transferrin saturation increased

•

en:transcobalamin ii deficiency

•

en:spongy degeneration of brain on histology

•

en:serum mitochondrial autoantibodies

•

en:serum iron normal

•

en:serum gastrin increased

•

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

•

en:no ketonuria

•

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

•

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:reduced erythrocyte glucose/hexose transport

•

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

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

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

•

en:protein total decreased

•

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

•

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

•

en:phytanic acid accumulation

•

en:persistent ebv viremia

•

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

•

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

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:increased cross-linked c-terminal telopeptide of type i collagen

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

en:elevated serum transaminase levels

•

en:elevated long chain fatty acids

•

en:elevated gastrin concentration

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:elevated alkaline phosphatase (in one patient)

•

en:elevated 3-methylcitric acid

•

en:disseminated intravascular coagulation

•

en:decreased urinary excretion of uromodulin

•

en:decreased serum igm

•

en:decreased plasma esterified cholesterol

•

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

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:elevated urinary 2-ethylhydracrylate

•

en:decreased glycerol kinase activity

•

en:decreased fibrillin-1 immunostaining in the dermis

•

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

•

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

•

en:decreased cholesterol (less common)

•

en:decreased asparagine levels (in some patients)

•

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

•

en:cytoplasmic lamellar concentric inclusions

•

en:creatine kinase levels may normalize with disease progression

•

en:chromosomal instability

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:increased cholesterol

•

en:elevated sweat chloride (some)

•

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

•

en:elevated urinary epinephrine

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:incomplete n-glycosylation of cellular proteins

•

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

•

en:immunoreactive pc protein

•

en:immunoglobulin antibodies present

•

en:hyponatremic dehydration, rarely

•

en:hypomagnesemia

•

en:hyperuricosuria

•

en:hyperprolinemia (10-15 times normal)

•

en:hyperornithinemia

•

en:hyperlipoproteinemia type i

•

en:hyperinsulinemia

•

en:hypercalciuria (in childhood)

•

en:impaired platelet aggregation

•

en:hla-dqw6 association (dqb1*0602)

•

en:glucosidase i deficiency in liver and fibroblasts

•

en:fasting hypoglycemia (early in disease course)

•

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

•

en:fibroblasts are small and rounded with prominent nucleoli

•

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

•

en:glucose-6-phosphate deficiency

•

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

•

en:glycogen storage disease type v

•

en:hair bulb tyrosinase present

•

en:heteroplasmic partial duplication of mtdna

•

en:granular osmiophilic deposits (grod) in cells

•

en:hb h erythrocyte inclusions

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:increased serum lactate (in some patients)

•

en:low csf creatinine

•

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

•

en:increased urinary glutaric acid

•

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

•

en:increased urinary catecholamines

•

en:low total serum protein

•

en:increased urinary 2-hydroxybutyrate

•

en:increased serum vitamin b12

•

en:increased serum uric acid

•

en:low serum ceruloplasmin

•

en:increased long-chain acylcarnitine

•

en:increased serum creatine kinase during episodes

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:increased plasma long-chain acylcarnitines

•

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

•

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

•

en:increased hepatic parenchymal cell stainable iron

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

en:increased csf histidine

•

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

•

en:increased c10:2-carnitine

•

en:igm deficiency

•

en:igg, elevated

•

en:hypoproteinemia due to hypercatabolism

•

en:markedly reduced iga levels

•

en:neonatal hypocalcemia

•

en:methemoglobinemia

•

en:reduced bending capacity of cilia

•

en:abnormal columnization of chondrocytes

•

en:hypercholesterolemia (in 75%)

•

en:vitamin b12 deficiency (in some patients)

•

en:very low igm

•

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

•

en:type i, classic, decreased antithrombin iii levels

•

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

•

en:triglyceride decreased

•

en:serum complement decreased

•

en:reticulocyte count increased

•

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

•

en:prothrombin time low

•

en:methylenetetrahydrofolate reductase deficiency

•

en:prolonged bleeding time

•

en:poor mitogenic response to growth factors

•

en:plasma catecholamines decreased

•

en:phospholipid antibody positive

•

en:no hyperphenylalaninemia

•

en:no chromosome breakage

•

en:normal serum levels of gamma-ggt (231950)

•

en:normal serum bile acids

•

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

•

en:mildly elevated hepatic enzymes

•

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

•

en:microscopic hematuria

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

en:decreased plasma gonadotrophin

•

en:hypercalciuria (in some patients)

•

en:anaphase loss or nondisjunction with trisomies, tetrasomies, monosomies

•

en:decreased atp synthase in muscle, heart, liver, and brain

•

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

•

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

•

en:decreased acetyl-coa carboxylase activity

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:creatine decreased

•

en:citrullinemia

•

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

•

en:cd4+/cd8+ ratio is reversed

•

en:carnitine deficiency

•

en:ballooned neurons

•

en:amylo-1,6-glucosidase deficiency

•

en:decreased mitochondrial complex v assembly

•

en:aminoaciduria, mild (in some patients)

•

en:alkaline phosphatase decreased

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

en:accumulation of guanidinoacetate in brain

•

en:absent or abnormal thyroglobulin

•

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

•

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

•

en:abnormal acylcarnitine profiles

•

en:5-hiaa csf may be normal or decreased

•

en:4-hydroxyphenylacetic aciduria

•

en:3-methylglutaric aciduria (3-mga)

•

en:abnormal karyotype in 3 patients involving distal 6p

•

en:decreased levels of certain coagulation factors

•

en:decreased phgdh activity (fibroblasts)

•

en:hyperbilirubinemia

•

en:elevated urinary ornithine, lysine, arginine

•

en:homocystinemia

•

en:high sweat electrolyte

•

en:high serum osmolality

•

en:hereditary factor x deficiency

•

•

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

•

en:galactosuria without galactosemia

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:folate-dependent fragile site at xq28

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

en:elevated urinary phosphoethanolamine

•

en:elevated urinary mevalonic acid

•

en:decreased plasma total cholesterol

•

en:elevated serum parathyroid hormone (pth) level

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:elevated plasma ammonia

•

en:elevated 8-dehydrocholesterol

•

en:dyskinetic ciliary motility

•

en:direct hyperbilirubinemia

•

en:deficient efflux of intracellular cholesterol

•

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

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

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

•

en:decreased serum thyroxine (t4)

•

en:decreased plasminogen antigen

•

en:abnormal isoelectric focusing of serum transferrin

•

en:decreased beta-thromboglobulin

•

en:abnormal liver function tests (in some patients)

•

en:increased serum bilirubin (in some patients)

•

en:increased urinary l-glycerate

•

en:increased urinary hydroxyisovaleric acid

•

en:increased urinary and serum glycine

•

en:increased urinary adenosine

•

en:increased urinary 2-oxoglutaric acid

•

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

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased total bilirubin may occur

•

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

•

en:increased serum ige

•

en:increased serum glycerol

•

en:increased rai (radioactive iodine) uptake

•

en:inner and outer dynein arm defects, variable

•

en:increased plasma proinsulin

•

en:increased osmotic fragility

•

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

•

en:increased csf interferon

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

en:impaired mitochondrial translation

•

en:hypouricemia

•

en:hypoalbuminemia

•

en:hypertriglyceridemia (in some patients)

•

en:hypernatremia

•

en:indirect hyperbilirubinemia

•

en:low cholesterol esterification rates

•

en:hyperglycemias, postprandial

•

en:no chromosomal breakage

•

en:vacuolated lymphocytes

•

en:urine uric acid decreased

•

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

•

en:undetectable serum l-transferrin (homozygous patient)

•

en:tyrosine iodination defect

•

en:serum transferrin glycosylation is normal

•

en:serum calcium elevated

•

en:saposin a deficiency (finding)

•

en:rheumatoid factor negative

•

en:presence of the philadelphia chromosome (translocation of 9q34 and 22q11) in greater than 95% of patients

•

en:no histochemical evidence of mitochondrial myopathy.

•

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

•

en:low serum acth

•

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

•

en:normal or mildly reduced sphingomyelinase activity

•

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

•

en:normal csf neurotransmitters

•

en:normal cerebrospinal fluid

•

en:normal apoa-ii levels in homozygotes

•

en:normal activity of von willebrand factor-cleaving protease

•

en:neonatal hyperbilirubinemia

•

en:mild to moderate hyperammonemia

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

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

•

en:lysine-ketoglutarate reductase deficiency

•

en:hyperlysinemia

•

en:normal to slightly elevated plasma cholesterol

•

en:hypercholesterolemia (disorder)

•

en:cilia may also be static, with slow activity

•

en:decreased plasma glycine

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:decreased or normal serum factor i

•

en:decreased or absent udp-glucuronyl-transferase activity

•

en:decreased or absent glycogen branching enzyme activity

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

en:decreased neopterin and biopterin in urine

•

en:decreased natural killer cells

•

en:decreased methylmalonyl-coa mutase activity

•

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

•

en:decreased csf pyridoxal

•

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

•

en:decreased serum rt3

•

en:cholesterol normal

•

•

en:blood pyruvic acid increased

•

en:beta-galactosidase deficiency in fibroblasts and white blood cells

•

•

en:antiphospholipid antibody

•

en:anti-ssb positive

•

en:anomalies of cholesterol levels

•

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

•

en:aminoaciduria (less common)

•

en:alanine aminotransferase increased

•

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

•

en:decreased serum levels of maoa products

•

en:axonemes show normal structure

•

en:decreased telomere length in lymphocytes

•

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

•

en:hyperchloridura

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:high sister chromatid exchange (sce) rate

•

en:hereditary angioedema

•

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

•

en:glutaric acidemia type 1

•

en:globulin gamma serum plasma increased result

•

en:galactosylation defects

•

en:fumarase deficiency

•

en:folic acid deficiency

•

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

•

en:gm2-ganglioside accumulation

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

en:elevated plasma estrogen

•

en:elevated total iron-binding capacity

•

en:deficiency of laminin in basement membranes

•

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

•

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

•

en:elevated gamma-glutamyltransferase

•

en:elevated sed rate

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

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

•

en:elevated serum iron and iron binding capacity

•

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

•

en:hypertryptophanemia

•

en:hypofibrinogenemia

•

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

•

en:hypogammaglobulinemia, profound

•

en:hyponatremia

•

en:hyposialylation of o-linked serum glycans

•

en:increased 11-deoxycortisol

•

en:increased cellular sensitivity to uv light

•

en:increased gamma-interferon

•

en:increased csf homovanillic acid (hva)

•

en:increased csf lactate

•

en:increased csf pyruvic acid

•

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

•

en:increased excretion of urobilinogen

•

en:increased histidine in blood, urine, and csf

•

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

•

en:increased lactate in spinal fluid

•

en:hyperchloremia (mean 109 mm)

•

en:increased plasma branched-chain fatty acids

•

en:hypercholesterolemia (reported in 2 patients)

•

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

•

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

•

en:elevated leukotriene e(4)

•

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

•

en:defect in oxidative phosphorylation

•

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

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:direct coombs test negative

•

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

•

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

•

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

•

en:elevated plasma stigmasterol

•

en:hyperarginemia

•

en:elevated serum alpha-fetoprotein

•

en:elevated serum protein

•

en:elevated urinary pge(2) levels

•

en:extremely low creatine excretion

•

en:frequent deletions of chromosome 9 in melanoma

•

•

en:glycosuria (less common)

•

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

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

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

•

en:increased plasma phospholipids

•

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

•

en:normal to mildly increased mucopolysacchariduria

•

en:normal urinary cyclic amp response to pth administration

•

en:normal urinary pterins

•

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

•

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

•

en:proper antibody response to protein vaccinations

•

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

•

en:reduced beating amplitudes in cilia

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:normal plasma phytanic acid

•

en:serum c-reactive protein may be increased

•

en:serum cholesterol low or normal

•

en:serum cholesterol raised

•

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

•

en:tryptophanuria

•

en:urine odor, maple syrup

•

en:variable hyperlipidemia

•

en:xanthine nephrolithiasis

•

en:normal pyridinoline excretion in urine

•

en:normal or increased serum phosphate

•

en:increased serum gamma-ggt (231950)

•

en:low csf creatine

•

en:increased serum thymidine

•

en:increased tissue long-chain fatty acids

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:increased urinary organic acids (in some patients)

•

en:increased urinary oxylate

•

en:iron overload (in some patients)

•

en:lack of lysosomal inclusions in visceral organs

•

en:lactic acidosis

•

en:low plasma methionine

•

en:normal lysl hydroxylase activity

•

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

•

en:mildly increased serum lactate

•

en:molybdenum cofactor deficiency

•

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

•

en:multiple tissue biopsies show lysosomal storage disease

•

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

•

en:normal baseline cortisol

•

en:normal collagen type i studies

•

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

•

en:decreased udp-glcnac

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846647 • caches: c1=8 c2=1003 c3=1

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