Le Diko - en:increased urinary 7-biopterin (primapterin)

waiting

Le Diko - en:increased urinary 7-biopterin (primapterin)

Javascript doit fonctionner ! Activez-le et rechargez cette page.

le dictionnaire d'associations lexicales
contributif et libre de JeuxDeMots

en:increased urinary 7-biopterin (primapterin)

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

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

•

en:normal or mildly increased serum creatine kinase

•

en:partial deficiency of factor xii(c)

•

en:decreased mitochondrial complex iii activity in muscle

•

en:immunoreactive pc protein

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:increased susceptibility to ebv infection

•

en:normal ciliary structure and function

•

en:hyperoxaluria

•

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

•

en:dicarboxylic aciduria

•

en:elevated erythrocyte adenosine deaminase activity

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

en:hawkinsinuria

•

en:mild elevation of cholesterol

•

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

•

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

•

en:cilia may also be static, with slow activity

•

en:reduced platelet glycoprotein ib complex

•

en:plasmalogen deficiency

•

en:increased neopterin in urine and csf

•

en:decreased activity of galactocerebrosidase

•

en:elevated serum long-chain fatty acids

•

en:elevated liver enzymes

•

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

•

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

•

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

•

en:decreased phk activity in liver

•

en:low maximal oxygen uptake on exercise testing

•

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

•

en:hypoglycorrhachia (low glucose in csf)

•

en:elevated serum transaminases during infections

•

en:normal concentration of parathyroid hormone

•

en:low ldl cholesterol

•

en:increased tissue levels of free fatty acids

•

en:increased plasma phytanic acid

•

en:increased urinary tricarboxylic acid intermediates

•

en:hyperprostaglandinuria

•

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

•

en:hypernatriuria

•

en:hypermagnesemia

•

en:galactosemia

•

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

•

en:thrombocytopenia

•

en:decreased antithrombin iii (rare)

•

en:elevated serum iron and iron binding capacity

•

en:elevated serum transaminase levels

•

en:increased urinary 2-ketoglutarate (variable)

•

en:low serum magnesium

•

en:normal platelet aggregation studies with adp, collagen, and ristocetin

•

•

en:elevated lathosterol

•

en:decreased plasma total and free carnitine

•

en:decreased urinary calcium and phosphate excretion

•

en:hereditary factor x deficiency

•

en:increased urinary 3-oh-propionic acid

•

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

•

en:plasma aldosterone increased

•

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

•

en:prothrombin time increased

•

en:decreased tissue and serum alkaline phosphatase

•

en:elevated progesterone

•

en:hypogammaglobulinemia, profound

•

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

•

en:low plasma hdl

•

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

•

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

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

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

•

en:increased plasma progastrin

•

en:elevated urinary hyaluronic acid levels

•

en:neutral hyperaminoaciduria

•

en:decreased plasmalogens

•

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

•

en:increased urinary isobutyryl glycine

•

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

•

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

•

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

•

en:reduced erythrocyte glucose/hexose transport

•

en:abnormal eeg in 25% hospitalized patients

•

en:pyruvic acidemia

•

en:alpha ketoadipic aciduria

•

en:abnormal urinary oligosaccharides

•

en:decreased eno3 activity

•

en:decreased s-ado:saicar ratio

•

en:dermatan sulfate excretion in urine

•

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

•

en:mildly elevated transaminases

•

en:mitochondrial deletions

•

en:phosphaturia (in some)

•

en:urocanase deficiency

•

en:very long chain fatty acid accumulation

•

en:serum complement decreased

•

en:cytogenetic deletion of chromosome 19q13

•

en:increased interleukin 10

•

en:normal or increased serum phosphate

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:karyomegaly may be found in other visceral organs

•

en:increased urinary propionyl glycine

•

en:increased urinary oxylate

•

en:hyperbilirubinemia in those with liver failure

•

en:glyoxalase deficiency

•

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

•

en:elevated fasting glucose

•

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

•

en:hypokalemia during periodic paralysis (most patients)

•

en:oligospermia or azoospermia

•

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

•

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

•

en:low or absent growth hormone (gh)

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:increased serum gm-csf

•

en:decreased serum igm

•

en:hypocholesterolemia

•

en:hepatic argininosuccinate synthetase deficiency

•

en:heparin cofactor ii deficiency (disorder)

•

en:galactosylation defects

•

en:decreased copper, iron, zinc

•

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

•

en:aldosterone level increased above normal

•

en:platelet count normal

•

en:low or low-normal serum t4

•

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:serum thyroxine may be decreased or normal

•

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

•

en:pancreatic trypsinogen deficiency

•

en:mucopolysaccharidosis type iiid

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:increased urinary urate

•

•

en:impaired n-glycosylation

•

en:decreased serum free thyroxine

•

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

•

en:decreased erythrocyte plasmalogen

•

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

•

en:decreased circulating aldosterone level

•

en:factor viii deficiency

•

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

•

en:decreased fibrillin-1 immunostaining in the dermis

•

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

•

•

en:plasma triglycerides increased

•

en:hyperphosphatemia

•

en:normal serum bile acids

•

en:normal number of t and b lymphocytes

•

en:increased csf homovanillic acid (hva)

•

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

•

en:decreased serum complement factor h

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:increased urinary creatine-to-creatinine ratio

•

en:fragmentation of the mitochondrial network

•

en:increased serum creatine kinase, mild

•

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

•

en:normal to mildly increased mucopolysacchariduria

•

en:increased serum direct bilirubin

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

en:serum iron normal

•

en:increased pristanic acid

•

en:hypertriglyceridemia, transient

•

en:hyperhomocystinemia

•

en:hyperglycemia

•

en:hypergammaglobulinemia

•

•

en:increased tissue long-chain fatty acids

•

en:normal erythrocyte gs activity

•

en:low plasma citrulline

•

en:increased transferrin saturation (>60%)

•

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

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:hyposialylation of o-linked serum glycans

•

en:hyperalphalipoproteinemia

•

en:deletion of chromosome 18p11.2

•

en:shortened metaphase

•

en:normocalcemia

•

en:hypernatremia

•

•

en:hypokalemia during attacks

•

en:'rectilinear profiles' ultrastructurally in cells

•

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

•

en:isovaleric acidemia

•

en:increased total and conjugated bilirubin

•

en:no dicarboxylic aciduria

•

en:elevated levels of vitamin b12

•

en:decreased glomerular filtration rate (gfr)

•

en:decreased csf ferritin despite normal serum ferritin levels

•

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

•

en:absence of peroxidase staining in neutrophils and monocytes

•

en:elevated blood spot hydroxybutyryl carnitine

•

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

•

en:increased urinary sulfatides

•

en:increased urine porphyrins at times

•

en:intermittent dicarbonic aciduria

•

en:intracellular accumulation of unesterified cholesterol

•

en:lactic acidemia (2p21del)

•

en:keratan sulfaturia in some patients

•

•

en:low-to-normal csf lactate

•

en:low fasting glucose (in some patients)

•

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

•

en:increased urinary phospholipids

•

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

•

en:increased erythrocyte sedimentation rate, episodic

•

en:increased serum s-adenosylhomocysteine

•

en:increased urinary glutaric acid

•

en:increased urinary excretion of coproporphyrin i

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:increased urinary 2-methylbutyrylglycine

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

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

•

en:increased serum pyruvate

•

en:increased serum creatine kinase in acute stage

•

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

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:increased lactate in spinal fluid

•

en:increased interferon-alpha signal

•

en:mildly decreased serum creatinine

•

en:microtubule disorganization in some cilia

•

en:reduced bending capacity of cilia

•

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

•

en:pyrimidinuria

•

en:2-aminoadipic aciduria

•

en:very low iga

•

en:variable defects of inner dynein arms

•

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

•

en:transient neonatal hypoglycemia (2p21del)

•

en:thyroid hormones increased

•

en:tay-sachs disease

•

en:sweat test normal

•

en:smooth muscle antibodies positive

•

en:serum triglycerides increased

•

en:serum thiamine is normal

•

en:serum testosterone decreased

•

en:secondary decrease of plasma free carnitine

•

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

•

en:propionic acidemia

•

en:normal cd8+/cd4+ ratio

•

en:pipecolic acidemia

•

en:phosphate normal

•

en:partial deficiency of factor xi (less common)

•

en:orotic aciduria

•

en:organic aciduria, mild (in some patients)

•

en:no metabolic abnormalities

•

en:normal urinary 17-ketosteroids

•

en:normal to slightly high alkaline phosphatase

•

en:normal to increased plasma threonine

•

en:normal serum liver enzymes

•

en:normal serum cobalamin

•

en:normal red cell counts

•

en:normal or mildly reduced serum cobalamin

•

en:normal complex ii activity

•

en:increased csf pyruvic acid

•

en:elevated plasma alloisoleucine

•

en:igg, decreased

•

en:cells show increased sensitivity to ionizing radiation

•

en:decreased hdl cholesterol

•

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

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

en:decreased csf methyltetrahydrofolate (mthf)

•

en:decreased cpt1 activity

•

en:decreased c3 activity

•

en:decreased beta-oxidation of pristanic acid

•

en:decreased activity of tyrosine hydroxylase

•

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

•

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

•

en:decreased acetyl-coa carboxylase activity

•

en:coombs positive hemolytic anemia

•

en:chylomicronemia, refractory fasting

•

en:cd4+/cd8+ ratio is reversed

•

en:decreased neopterin and biopterin in csf

•

en:carnitine deficiency

•

en:alpha fetoprotein increased

•

en:alkaline phosphatase decreased

•

en:agammaglobulinemia

•

en:absent platelet agglutination in presence of ristocetin

•

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

•

en:abnormal serum glycoproteins

•

en:abnormal n-glycosylation of transferrin

•

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

•

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

•

en:abnormal cholesterol homeostasis

•

en:5-hiaa csf may be normal or decreased

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:abacterial leukocyturia

•

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

•

en:decreased plasma free carnitine

•

en:hypoglycemia

•

en:elevated serum phosphate in heterozygotes

•

en:hyperlipoproteinemia type i

•

en:hyperglycolic aciduria

•

en:hypercalcemia

•

en:homocysteinemia (in some patients)

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:high serum inosine levels

•

en:high plasma asparagine

•

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

•

en:hair bulb tyrosinase present

•

en:glycogen storage disease type vii

•

en:glycogen storage disease type v

•

en:glycoamino aciduria

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:fasting chylomicronemia

•

en:elevated plasma methionine (methioninemia)

•

en:decreased plasma serine

•

en:elevated plasma levels of lp(a)

•

en:elevated leukotriene e(4)

•

en:elevated il6

•

en:elevated dihydrobiopterin in csf

•

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

•

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

•

en:defective bile acid metabolism

•

en:decreased xanthine dehydrogenase activity

•

en:decreased urinary sulfate

•

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

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:decreased serum ceruloplasmin

•

en:decreased serum alpha-2 macroglobulin levels

•

en:decreased plasma zinc levels

•

en:5-oxoprolinase deficiency

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

en:abnormal lipid profile

•

en:increased serum glycine, leucine, isoleucine, valine

•

en:increased urinary taurine

•

en:increased urinary sulfatide excretion

•

en:increased urinary methylcitrate

•

en:increased urinary excretion of l-xylulose

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased urinary and serum glycine

•

en:increased urinary 3-oh-butyric acid

•

en:increased urinary 2-methylacetoacetic acid

•

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

•

en:increased tissue long-chain acylcarnitines

•

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

•

en:increased serum methionine

•

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

•

en:increased serum bilirubin due to hemolysis

•

en:intracellular granular material on ultrastructural analysis

•

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

•

en:increased serum, urinary, and csf saccharopine (in some patients)

•

en:increased pyruvate in serum and csf

•

en:increased nasal-potential difference (some)

•

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

•

en:increased il6, episodic

•

en:increased il-6

•

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

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:increased csf protein during acute illness

•

en:increased csf immunoglobulin levels

•

en:increased chromosomal breakage

•

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

•

en:inappropriately increased urine osmolality

•

en:intermittent ethylmalonic aciduria

•

en:low-to-normal platelet count

•

en:hypoproteinemia

•

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

•

en:xanthine nephrolithiasis

•

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

•

en:variable hyperlipidemia

•

en:upregulation of alpha-interferon-stimulated genes

•

en:undetectable plasma dbh activity

•

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

•

en:transferrin saturation increased

•

en:shortened telomeres (in 1 of 2 patients)

•

en:serum prolactin increased

•

en:round, yellow-brown dha urine crystals

•

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

•

en:protein total decreased

•

en:proper antibody response to protein vaccinations

•

en:platelet antibody positive

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:low apolipoprotein

•

en:normal to slightly elevated plasma cholesterol

•

en:normal plasma total homocysteine

•

en:normal plasma phytanic acid

•

en:normal lysl hydroxylase activity

•

en:normal cerebrospinal fluid

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:myelin basic protein measurement, spinal fluid

•

en:multiple tissue biopsies show lysosomal storage disease

•

en:mildly increased serum lactate

•

en:microsomal hmg-coa reductase decreased

•

en:microduplication of chromosome 5p13

•

en:march myoglobinuria

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:low plasma methionine

•

en:i-cell disease

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:hypocalciuria or normocalciuria

•

en:decreased asparagine levels (in some patients)

•

en:decreased serum cholesterol (in some)

•

en:decreased serum carnitine in acute stage

•

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

•

en:decreased serum androgens

•

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

•

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

•

en:decreased or absent apolipoprotein a-i

•

en:decreased mucosal alkaline phosphatase

•

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

•

en:decreased methylmalonyl-coa mutase activity

•

en:decreased fibroblast alpha-mannosidase

•

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

•

en:decreased cortisol-binding globulin

•

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

•

en:decreased sulfite oxidase activity

•

en:decreased activity of dihydrofolate reductase

•

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

•

en:csf pleocytosis, particularly of lymphocytes

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

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

•

en:bicarbonaturia

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

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

•

en:alkaline phosphatase normal

•

en:adrenocorticotropic hormone, increased

•

en:acylglycinuria

•

en:hyperkalemia during attacks

•

en:acute hyperammonemia

•

en:absent dystrophin on muscle biopsy

•

en:decreased serum thiamine pyrophosphate

•

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

•

en:decreased telomerase activity

•

en:elevated mchc

•

en:hyperbilirubinemia

•

en:high ornithine

•

en:high ft3/ft4 ratio

•

en:hereditary xanthinuria

•

en:hemophilia b

•

•

en:hair bulbs will pigment when incubated with tyrosine

•

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

•

en:gonadotrophin increased

•

en:glomerular filtration rate decreased

•

en:elevated urine ceramide levels

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

en:elevated plasma follicle stimulating hormone (fsh)

•

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

•

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

•

en:distal xp22.3 segmental monosomy

•

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

•

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

•

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

•

en:dilated rough endoplasmic reticulum (rer)

•

en:diminished lymphocyte response to phytohemaglutinin

•

en:hypercalciuria

•

en:elevated afp (endodermal sinus tumor)

•

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

•

en:elevated calcitonin

•

en:elevated cerebrospinal fluid (csf) protein

•

en:elevated gamma-glutamyltransferase (ggt)

•

en:elevated liver function tests

•

en:increased sodium-potassium pump activity

•

en:increased serum ferritin (in some patients)

•

en:increased serum gamma-ggt (231950)

•

en:increased serum lactate, particularly after exercise

•

en:increased serum lactate (mild)

•

en:increased serum lactate during metabolic crisis

•

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

•

en:increased uric acid with exercise

•

en:increased urinary cortisol/cortisone ratio

•

en:liver enzymes abnormal

•

en:increased urinary homovanillic acid (hva)

•

•

en:increased serum c4 and c5 acylcarnitine esters

•

•

en:incomplete n-glycosylation of cellular proteins

•

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

•

en:increased csf interferon

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

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

•

en:hypocalcemia (64% of adults)

•

en:increased 18-ohb to aldosterone ratio

•

en:increased creatine kinase (ck)

•

en:increased csf glycine

•

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

•

en:increased serum butyryl carnitine

•

en:increased il1b increased soluble il2r

•

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

•

en:increased peripheral blood monocytes

•

en:increased plasma vldl, ldl

•

en:increased rai (radioactive iodine) uptake

•

en:increased serum bile acids

•

en:lower total cholesterol

•

en:serum alkaline phosphatase normal or mildly increased

•

en:low urinary orotic acid

•

en:normal to elevated total plasma carnitine

•

en:hyperchloremia (mean 109 mm)

•

en:serum folate normal

•

en:serum ferritin normal

•

en:serum acid phosphatase normal

•

en:rhabdomyolysis in response to alcohol

•

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

•

en:pseudohypertriglyceridemia in adult form

•

en:prothrombin time low

•

en:premature chromosome condensation

•

en:predominance of the d-stereoisomer

•

en:positive urine dnph screening test

•

en:parathyroid hormone level increased

•

en:oestradiol decreased

•

en:normal urinary orotic acid

•

en:normal serum 25-hydroxyvitamin d3

•

en:lysosomal-like storage vacuoles in various tissues

•

en:neutropenia (in 1 patient)

•

en:markedly reduced iga levels

•

en:methionine adenosyltransferase deficiency

•

en:methylmalonic acidemia

•

en:mitochondria dna deletion

•

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

•

en:negative nitroblue tetrazolium (nbt) reduction test

•

en:normal blood lactate

•

en:normal sedimentation rate

•

en:normal igm levels

•

en:normal isoelectric focusing of serum transferrin

•

en:normal leukocyte and platelet counts

•

en:normal lysosomal hydrolases

•

en:normal maltase, isomaltase, and sucrase activity

•

en:normal parathyroid hormone (female)

•

en:hypercholesterolemia (disorder)

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:hyperarginemia

•

en:chromosomal mosaicism in cultured cells

•

en:decreased long-chain fatty acid oxidation

•

en:decreased lipid-linked oligosaccharides (llo)

•

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

•

en:decreased csf arginine

•

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

•

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

•

en:decreased aminoacylase-1 activity

•

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

•

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

•

en:decreased activity of complement factor d

•

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

•

en:cystathioninuria (lab finding)

•

en:creatine kinase normal between episodes

•

en:creatine decreased

•

en:broad tissue deposition of amylopectin-like material

•

en:decreased mitochondrial complex v assembly

•

en:blood urea nitrogen increased

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:aminoaciduria

•

en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria

•

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

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

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

•

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

•

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

•

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

•

en:abnormal liver enzymes, intermittent (1 patient)

•

en:abnormal dystrophin on muscle biopsy

•

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

•

en:t-lymphocytopenia

•

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

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

•

en:elevated ammonia

•

en:gm2-ganglioside accumulation

•

en:fibrinogen decreased

•

en:fasting hypoglycemia (early in disease course)

•

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

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

en:elevated serum parathyroid hormone (pth)

•

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

•

en:elevated plasma stigmasterol

•

en:elevated l-2-hydroxyglutaric acid (urine)

•

en:elevated hepatic transaminases

•

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

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

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

•

en:electrolyturia (1 patient)

•

en:decreased monoamine oxidase a activity

•

en:decreased uros activity (1 patient)

•

en:decreased or absent gch1 activity

•

en:decreased or absent histidase activity

•

en:decreased or absent serum ceruloplasmin

•

en:decreased or normal plasma insulin

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased thyroxine level

•

en:decreased von willebrand factor

•

en:duplication or deletion at 11p15.5

•

en:deficiency of fat-soluble vitamins

•

en:deficiency or absence of p91-phox protein

•

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:dimethylglycine dehydrogenase (dmgdh) deficiency

•

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

•

en:serum phosphate normal

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:thyroid dyshormonogenesis 4

•

en:lack of lysosomal inclusions in visceral organs

•

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

•

en:normal male karyotype (46,xy)

•

en:normal eosinophil peroxidase activity

•

en:n-glycosylation defect

•

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

•

en:monomeric igm

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:medium chain dicarboxylic aciduria

•

en:lysine-ketoglutarate reductase deficiency

•

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

•

en:low serum levels of ketone bodies

•

en:low serum alpha-fetoprotein (recessive)

•

en:low or undetectable c-peptide

•

en:low csf creatine

•

en:lack of ciliary motility

•

en:normal or mildly increased thyroid-stimulating hormone (tsh)

•

en:indirect hyperbilirubinemia

•

en:increased urine vanillactic acid (vla)

•

en:increased urinary o-linked sialopeptides

•

en:increased urinary excretion of camp

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased serum uric acid

•

en:increased serum pyruvate, mild

•

en:increased serum lactate hydrogenase

•

en:increased serum creatine kinase during episodes

•

en:increased serum arylsulfatase a.

•

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

•

en:increased plasma levels of bile acid intermediates

•

en:increased phytanic acid in body tissues and fluids

•

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

•

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

•

en:normal serum and mucosal iga

•

en:increased di- and asialo-transferrin

•

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

•

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

•

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

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:tryptophanuria

•

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

•

en:thrombocytosis (in some patients)

•

en:severely decreased antigen levels of vwf and factor viii

•

en:serum ferritin hyperglycosylation

•

en:serum bilirubin increased

•

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

•

•

•

en:postprandial hyperglycemia (early in disease course)

•

en:normal serum creatine kinase

•

en:parathyroid hormone normal

•

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

•

en:normal transferrin isoelectric profile

•

en:normal tyrosinase

•

en:normal urinary cyclic amp response to pth administration

•

en:organic aciduria

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

en:patient cells show increased chromosome breakage

•

en:positive antinuclear antibody test

•

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

•

en:phosphaturia may disappear after a long period of time

•

en:phytanic acid accumulation

•

en:plasma ammonia not elevated

•

en:plasma protein c deficiency

•

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

•

en:increased lactate: pyruvate ratio (group b)

•

en:telomere shortening

•

en:increased csf histidine

•

en:antiphospholipid antibody

•

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

•

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

•

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

•

en:decreased axonal flare response after intradermal histamine injection

•

en:decreased agt activity

•

en:decreased activity of pyruvate dehydrogenase complex

•

en:decreased activity of ppt1

•

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

•

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

•

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

•

en:cytosolic phosphoenolpyruvate carboxykinase deficiency

•

en:creatine phosphokinase increased

•

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

•

en:antithrombin iii decreased

•

en:anti-ssb positive

•

en:decreased neopterin and biopterin in urine

•

en:anomalies of cholesterol levels

•

en:aminoaciduria (1 patient)

•

en:alpha 1 foetoprotein amniotic fluid increased

•

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

•

•

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

•

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

•

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

•

en:widespread interstitial fibrosis (visceral organs)

•

en:urine osmolarity decreased

•

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

•

en:tyrosine loss

•

en:increased creatine kinase, mild to moderate

•

en:type i, classic, decreased antithrombin iii levels

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:abnormal karyotype in 3 patients involving distal 6p

•

en:decreased plasma triglycerides

•

en:elevated propionate

•

en:decreased serum thyroxine (t4)

•

en:increased c10:2-carnitine

•

en:hypoglycosylation of plasma glycoproteins

•

en:hyperprolinemia (5-10 times normal)

•

en:hypermethioninemia, progressive

•

en:hyperammonemia after protein intake

•

en:homocystinuria (in some patients)

•

en:heparan sulfate excretion in urine

•

en:hematuria, macroscopic and microscopic

•

en:folate-dependent fragile site at xq28

•

en:foam cells in bone marrow and renal glomeruli

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:ferritin decreased

•

en:elevated urinary 3-methylglutaconate

•

en:hyperoxalaemia

•

en:elevated plasma ornithine (~10-fold)

•

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

•

en:decreased triiodothyronine level

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:defective glcnac-pi synthesis

•

en:deficiency of fructokinase

•

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

•

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

•

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

•

en:hyponatremia in infancy

•

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

•

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

•

en:echocardiogram abnormal

•

en:electrolyte disturbances from intractable diarrhea

•

en:elevated 17-hydroxyprogesterone

•

en:elevated il1-beta

•

en:increased serum ammonia (group b)

•

en:increased serum creatine kinase (1 family)

•

en:increased serum deoxyuridine

•

en:increased serum triglycerides (in some patients)

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:increased thyroid-stimulating hormone (tsh)

•

en:increased urinary carnitine

•

en:increased urinary mannose-containing oligosaccharides

•

en:increased urinary tiglylglycine

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:irregularly shaped sperm heads

•

en:increased serum alkaline phosphatase (in some patients)

•

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

•

en:increased plasma proinsulin

•

en:increased plasma branched-chain fatty acids

•

en:increased igm level

•

en:increased alpha-fetoprotein in the mother during early pregnancy while carrying an affected fetus

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:inappropriately low urine osmolality

•

en:igg deficiency

•

en:hypoprebetalipoproteinemia

•

en:hypocalciuria

•

en:hyperglycinemia (1 patient)

•

en:hyperglycemias, postprandial

•

en:isovalerylglycinuria

•

en:hyperglutaminemia

•

en:increased osmotic fragility

•

en:normal aldosterone

•

en:karyotype analysis normal finding

•

en:normal or decreased serum potassium

•

en:proteinuria (type ii, congenital)

•

en:homozygous 122kb deletion 11p15-p14

•

en:platelet function test normal

•

en:phosphorylase kinase normal in muscle

•

en:osteocalcin increased

•

en:occasionally mild elevation of csf protein

•

en:no increased sensitivity to oxidative species

•

en:no cartilage staining with toluidine blue

•

en:normal serum complement levels

•

en:normal platelet aggregation response to epinephrine, adp, collagen, and ristocetin

•

en:normal or mildly decreased arylsulfatase a activity

•

en:normal or increased serum creatine kinase

•

en:normal lysyl oxidase activity

•

en:low absolute lymphocyte count

•

en:normal 46,xy karyotype

•

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

•

en:monoclonal gammopathy

•

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

•

en:methylenetetrahydrofolate reductase deficiency

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:may have increased serum parathyroid hormone (pth)

•

en:low urinary cyclic amp response to pth administration

•

en:low serum alkaline phosphatase in heterozygotes

•

en:low plasma triglyceride level

•

en:low or normal serum igm

•

en:low or absent igm levels

•

en:low cd4+ count

•

en:hypercalciuria (in childhood)

•

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

•

en:high nonceruloplasmin-bound serum copper

•

en:cell studies show increased dna breakage

•

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

•

en:decreased hepatic gaba transaminase activity

•

en:decreased glutamine in bodily fluids

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

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

•

en:decreased decr enzyme activity

•

en:decreased csf homovanillic acid (hva)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:decreased plasma total cholesterol

•

en:blood glucose normal

•

en:aprt deficiency measured in erythrocyte lysate

•

en:antithrombin iii deficiency

•

en:antineutrophil cytoplasmic antibody

•

en:anti-ds dna antibody

•

en:aminoaciduria (in some patients)

•

en:absence of outer dynein arms

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

en:abnormal urinary compounds

•

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

•

en:abnormal liver function tests during pregnancy, resolves postpartum

•

en:3-methylglutaric aciduria (3-mga)

•

en:reticulocyte count increased

•

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

•

en:decreased serum cobalamin

•

en:heteroplasmic partial duplication of mtdna

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

en:hereditary angioedema

•

en:galactosuria

•

en:fumarase deficiency

•

en:frequent deletions of chromosome 9 in melanoma

•

en:foam cells in visceral organs and cns

•

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

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

en:factor vii deficiency

•

en:excessive iodide trapping

•

en:elevated serum acid phosphatase

•

en:elevated pyruvate (in most patients)

•

en:elevated plasma citrulline (citrullinemia)

•

en:elevated long chain fatty acids

•

en:decreased serum factor b (atypical hus)

•

en:elevated gastrin concentration

•

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

•

en:elevated alkaline phosphatase of bone origin

•

en:elevated 1,25(oh)2 d3

•

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

•

en:disseminated intravascular coagulation

•

en:disorganized growth plate cartilage

•

en:defect in mitochondrial and peroxisomal fission

•

en:defective dna repair after ultraviolet radiation damage

•

en:decreased transferrin increased serum iron

•

en:decreased tetrasialotransferrin levels

•

en:decreased telomere length in lymphocytes

•

en:decreased serum factor i (atypical hus)

•

en:reduced erythrocyte adenosine deaminase activity

•

en:hyperlipidemia

•

en:sce normal in heterozygotes

•

en:serum calcitonin, increased

•

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

•

en:low to low-normal magnesium

•

en:low serum acth

•

en:liver transaminases normal to slightly increased

•

en:liver function tests normal

•

en:ketonuria (1 patient)

•

•

en:iron overload (in some patients)

•

en:increased urinary thymine

•

en:increased urinary hydroxyisovaleric acid

•

en:increased urinary hga

•

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

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:increased soluble il2 receptor

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:increased serum s-adenosylmethionine

•

en:increased serum lactate

•

en:increased serum growth hormone levels

•

en:increased serum fgf23

•

en:increased serum c26-bile-acid intermediates

•

en:increased serum and csf lactate

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:increased plasma renin activity

•

en:increased plasma pristanic acid

•

en:increased plasma free cholesterol

•

en:methylmalonic aciduria

•

en:neonatal hyperbilirubinemia

•

en:increased csf lactate during acute episodes

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

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

•

en:undetectable serum l-transferrin (homozygous patient)

•

•

en:transient hyperlipidemia

•

en:transcobalamin ii deficiency

•

en:spongy degeneration of brain on histology

•

en:shortened telomeres (1 patient)

•

en:serum pristanic acid increased

•

en:serum creatine kinase may be normal or increased

•

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

•

en:reduced serum uric acid

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

•

en:normal collagen type i studies

•

en:prolonged partial thromboplastin time (ptt)

•

en:premature separation of centromeric heterochromatin

•

en:positive urinary bratton-marshall test

•

en:parathyroid hormone (pth) absent to low

•

en:orotic acid crystalluria

•

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

•

en:no ketonuria

•

en:no evidence of common prenatal infections

•

en:no chromosomal breakage

•

en:normal serum cobalamin (vitamin b12)

•

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

•

en:normal lysyl hydroxylase activity

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:increased fractional excretion of uric acid

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:increased ammonia with exercise

•

en:anti-factor viii positive

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:decreased fibroblast beta-hexosaminidase

•

en:decreased c3 antigen

•

en:decreased beta-thromboglobulin

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

en:decreased activity of nadph oxidase

•

en:cortisol does not decrease on dexamethasone suppression test

•

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

•

en:cerebrospinal fluid lymphocytosis

•

en:c-band karyotype shows 'railroad track' appearance

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

en:blood pyruvic acid increased

•

en:increased 18-hydroxycortisol

•

en:decreased plasma glycine

•

en:absent axonal flare response to intradermal histamine injection

•

en:abnormal secretin test

•

en:abnormal liver function tests (in some patients)

•

en:abnormal liver enzymes (1 patient)

•

en:abnormal isoelectric focusing of serum transferrin

•

en:variegated translocation mosaicism in cultured fibroblasts

•

en:urinary excretion of mucopolysaccharides

•

en:undetectable serum arginine vasopressin, or antidiuretic hormone (adh, avp, 192340)

•

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

•

en:tsh decreased

•

en:transferase deficiency galactosemia

•

en:systemic amyloidosis may occur

•

en:serum lactate may be increased during encephalopathic exacerbations

•

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

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:decreased serum bun

•

en:glutaric aciduria

•

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

•

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

•

en:igm deficiency

•

en:igg, elevated

•

en:hypophosphatemia (less common)

•

en:hypogammaglobulinemia (in some patients)

•

en:hypogammaglobulinemia

•

en:hyperphosphatemia, transient

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

en:homocystinemia

•

en:high plasma citrulline (100-300 micromolar)

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:hypertriglyceridemia (rare)

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

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

•

en:decreased serum vitamin a

•

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

•

en:decreased whole blood serotonin

•

en:defective dna repair

•

en:direct hyperbilirubinemia

•

en:dyskinetic ciliary motility

•

en:elevated free carnitine

•

en:elevated resting serum lactate, increased with exercise

•

en:elevated sepiapterin in csf

•

en:elevated white blood cell cystine

•

en:excessive urinary 5-oxo-l-proline

•

en:farber lipogranulomatosis

•

en:no lactic acidosis

•

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

•

en:no hyperuricemia

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:normal serum transferrin profiles

•

en:normal serum folate levels

•

en:methemoglobin concentration 12 to 19%

•

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

•

en:normal axonal flare response after intradermal histamine injection

•

•

en:myoglobinuria with extreme exertion

•

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

•

en:microdeletion 22q11.2

•

en:partial deficiency of factor xiii (less common)

•

en:no mucopolysacchariduria

•

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

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

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

•

en:variable respiratory chain enzyme deficiency

•

en:urine uric acid decreased

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:uric acid normal

•

en:translocation (x,7)(p11.3,q11.21) - in some patients

•

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

•

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

•

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

•

en:serum testosterone level normal

•

en:serum phosphate concentration below normal

•

en:serum cholesterol raised

•

en:serum carnitine deficiency

•

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

•

en:rheumatoid factor negative

•

en:low density lipoprotein increased

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6880929 • caches: c1=8 c2=1003 c3=1

po

la

ti

le

as

ku

co

lo

to

ta

ta

xe

po

li

?!

!?

[Vider le cache]

A propos

Champs masqués

8.4 s