Diko : en:increased lactate in spinal fluid

en:increased lactate in spinal fluid

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C3550486

Associations d'idées

[F]

›

1000

en:subsarcolemmal pleomorphic mitochondria on em

•

en:partial deficiency of factor xi(c)

•

en:serum creatine kinase may be normal or increased

•

en:absent platelet agglutination in presence of ristocetin

•

en:defect in oxidative phosphorylation

•

en:hepatic lipase deficiency (disorder)

•

en:increased serum lysine (group b)

•

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

•

en:low csf creatinine

•

en:nonketotic hypoglycemia

•

en:irregularly shaped sperm heads

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:increased serum methionine (reported in 2 cases)

•

en:type iii collagen defect

•

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

•

en:increased urinary propionyl glycine

•

en:persistent ebv viremia

•

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

•

en:elevated crp

•

en:elevated 7-dehydrocholesterol

•

en:reduced ferrochelatase activity

•

en:aberrant gamma-interferon-mediated inflammation

•

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

•

en:increased plasma and urinary pipecolic acid

•

en:increased serum parathyroid hormone (pth)

•

en:increased urinary cortisol/cortisone ratio

•

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

•

en:lactate pyruvate ratio normal

•

en:mitochondria dna deletion

•

en:high serum inosine levels

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:increased serum and csf glycine

•

en:molybdenum cofactor deficiency

•

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

•

en:renin decreased

•

en:decreased activity of mitochondrial respiratory chain complex i

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

en:defective glcnac-pi synthesis

•

en:decreased plasminogen activity

•

en:decreased plasma total and free carnitine

•

en:elevated serum phosphorus

•

en:increased serum lactate hydrogenase

•

en:low plasma citrulline

•

en:iron deficiency

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:increased serum s-adenosylmethionine

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:electrolyturia (1 patient)

•

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

•

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

•

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

•

en:may have increased serum parathyroid hormone (pth)

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria

•

en:some increase in monosialo- and trisialotransferrin (type 1/2 pattern)

•

en:serum creatinine raised

•

en:mild elevation of cholesterol

•

en:t-cell deficit

•

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

•

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

•

en:mild to moderate hyperammonemia

•

en:monomeric igm

•

en:low acth level

•

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

•

en:increased serum alanine

•

en:increased fractional excretion of uric acid

•

en:decreased or absent apolipoprotein a-i

•

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

•

en:decreased tetrasialo-transferrin

•

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

•

en:decreased plasma lpl levels (in some patients)

•

en:elevated plasma campesterol

•

en:elevated serum protein

•

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

•

en:marked hypoalphalipoproteinemia (in some patients)

•

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

•

en:postprandial hyperglycemia (early in disease course)

•

en:elevated serum parathyroid hormone (pth) level

•

en:increased prevalence among the native american lumbee indians

•

en:increased serum gm-csf

•

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

•

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

•

en:low plasma free and total carnitine

•

en:normal eosinophil peroxidase activity

•

en:reticulocytosis

•

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

•

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

•

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

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

en:elevated 2-ketoglutarate (urine)

•

en:increased free cyanocobalamin in fibroblasts

•

en:increased uric acid level

•

en:presence of serum anti-lu3 antibodies

•

en:decreased plasma apolipoprotein c-ii

•

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

•

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

•

en:elevated serum transferrin saturation

•

en:glyoxalase deficiency

•

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

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:decreased serum cholesterol (in some)

•

en:hypouricemia

•

en:hypokalemia

•

en:hyperglycinemia (1 patient)

•

en:decreased transferrin increased serum iron

•

en:decreased or increased serum testosterone

•

en:decreased serum levels of maoa products

•

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

•

en:decreased palmitate oxidation

•

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

•

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

•

en:increased urinary prostaglandin e2

•

en:increased serum transferrin

•

en:cilia may also be static, with slow activity

•

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

•

en:elevated plasma and urine succinylacetone

•

en:low-to-normal csf lactate

•

en:thyroid dyshormonogenesis 5

•

en:increased urinary 2-oxoglutaric acid

•

en:increased 18-oxocortisol

•

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

•

en:decreased triiodothyronine level

•

en:accumulation of cholesterol esters in various tissues

•

en:abnormal secretin test

•

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

•

en:normal serum liver enzymes

•

en:low-normal igm

•

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

•

en:normal plasma and tissue carnitine

•

en:mildly elevated hepatic enzymes

•

en:median mean platelet volume (mpv) 20fl

•

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

•

en:increased pyruvate in serum and csf

•

en:extremely low creatine excretion

•

en:deficiency of fat-soluble vitamins

•

en:decreased or absent steroid sulfatase activity

•

en:decreased blood levels of cationic amino acids

•

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

•

en:chondroitin 4-, 6-sulfate excretion in urine

•

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

•

en:increased urinary succinic acid

•

en:decreased dermal hydroxylysine content

•

en:normal or mildly reduced sphingomyelinase activity

•

en:myoglobinuria after exertion

•

en:lysine-ketoglutarate reductase deficiency

•

en:normal urinary cyclic amp response to pth administration

•

en:increased thyroid-stimulating hormone (tsh)

•

en:hypocalcemia (male)

•

en:elevated erythrocyte adenosine deaminase

•

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

•

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

•

en:hypoproteinemia due to hypercatabolism

•

en:increased plasma homogentisic acid (hga)

•

en:methylmalonic acidemia

•

en:low or absent growth hormone (gh)

•

en:increased urinary vanillylmandelic acid (vma)

•

en:increased serum acylcarnitines

•

en:deletion of chromosome 18p11.2

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:elevated serum acid phosphatase

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:decreased or absent gch1 activity

•

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

•

en:abnormal urinary organic acids

•

en:pms excrete 10 to 200 times less metabolite in urine than wildtype (em)

•

en:hyperchloremia (mean 114 mm)

•

en:absent anti-insulin receptor antibodies

•

en:increased urinary tricarboxylic acid intermediates

•

en:decreased or absent udp-glucuronyl-transferase activity

•

en:transient hyperlipidemia

•

en:schirmer test shows alacrima

•

en:reduced erythrocyte glucose/hexose transport

•

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

•

en:low to low-normal magnesium

•

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

•

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

•

en:increased chromosomal breakage

•

en:hyperlipidemia

•

en:high ornithine

•

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

•

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

•

en:lactic acidemia (2p21del)

•

en:increased serum bilirubin due to hemolysis

•

en:increased serum creatine kinase (less common)

•

en:hyponatremic dehydration, rarely

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased urinary 3-oh-propionic acid

•

en:increased urinary homovanillic acid (hva)

•

en:increased urinary citric acid cycle intermediates

•

en:increased urinary creatine-to-creatinine ratio

•

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

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:increased serum alpha-mannosidase

•

en:increased serum and csf lactate

•

en:increased bone serum acid phosphatase

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:increased pristanic acid

•

en:increased long-chain acylcarnitine

•

en:increased ige level

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

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

•

en:increased creatine kinase (ck)

•

en:increased blood alanine

•

en:incomplete n-glycosylation of cellular proteins

•

en:immunoreactive pc protein

•

en:iiga and igg antigliadin antibodies (aga)

•

en:igg, decreased

•

en:long-chain dicarboxylic aciduria

•

en:liver enzymes abnormal

•

en:partial deficiency of factor xiii(c)

•

en:low copper and ceruloplasmin

•

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

•

en:rheumatoid factor positive (finding)

•

en:relatively low urinary pge-m levels

•

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

•

en:pyruvic acidemia

•

en:prolonged prothrombin and partial thromboplastin times

•

en:presence of vacuoles on muscle biopsy

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:partial deficiency of factor xi (less common)

•

en:hyperprolinemia type 1

•

en:normal urinary 17-ketosteroids

•

en:normal to slightly high alkaline phosphatase

•

en:normal serum phosphorus

•

en:normal serum cobalamin

•

en:low fasting glucose (in some patients)

•

en:normal serum 25-hydroxyvitamin d3

•

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

•

en:normal or decreased serum potassium

•

en:normal lysosomal hydrolases

•

en:normal g(s)-alpha levels (139320)

•

en:normal arterial oxygen saturation

•

en:myoglobinuria (reported in 1 patient)

•

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

•

en:median mean platelet volume (mpv) 12.5fl

•

en:low urinary cyclic amp response to pth administration

•

en:low to normal tsh (values may vary depending on the measurement methods used)

•

en:low serum magnesium

•

en:low or absent prolactin (pl)

•

en:hypoglycosylated serum transferrin

•

en:deficiency or absence of p91-phox protein

•

en:hyperlactemia

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

en:decreased plasma apolipoprotein b (apob, 107730)

•

en:decreased or absent pts activity

•

en:decreased or absent histidase activity

•

en:decreased or absent dihydropteridine reductase activity

•

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

•

en:decreased nasal nitric oxide (in some patients)

•

en:decreased ldl cholesterol

•

en:decreased hexokinase activity in red blood cells

•

en:decreased hepatic gaba transaminase activity

•

en:decreased glutamine in bodily fluids

•

en:decreased fibrinogen (in some patients)

•

en:decreased decr enzyme activity

•

en:decreased cpt1 activity

•

en:decreased s-ado:saicar ratio

•

en:decreased cerebrospinal fluid folic acid

•

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

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

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

•

en:cell studies show increased dna breakage

•

en:cd4+/cd8+ ratio is reversed

•

en:aneuploidy of the x chromosome

•

en:alpha-fetoprotein normal

•

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

•

en:abnormal igfr1 function

•

en:abnormal fecal fat

•

en:serum ammonia increased

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

•

en:decreased serum ceruloplasmin

•

en:hyperkalemia

•

en:elevated urinary hyaluronic acid levels

•

en:hyperglycemias, postprandial

•

en:high sister chromatid exchange (sce) rate

•

en:high plasma asparagine

•

en:high ebv viral load

•

en:hereditary fructose intolerance

•

en:hepatic gamma-cystathionase deficiency

•

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

•

en:glutaric acidemia type 1

•

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

•

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

•

en:factor vii deficiency

•

en:elevated urine unsulfated chondroitin sulfate

•

en:elevated urinary epinephrine

•

en:decreased serum factor b (atypical hus)

•

en:elevated urinary delta-aminolevulinic acid

•

en:elevated plasma stigmasterol

•

en:elevated fibroblast free sialic acid

•

en:elevated alkaline phosphatase

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

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

•

en:deficiency of laminin in basement membranes

•

en:defect in mitochondrial and peroxisomal fission

•

en:decrease plasma serine (fasting)

•

en:decreased thyroxine level

•

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

•

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

•

en:decreased serum igm

•

en:serum alkaline phosphatase normal or mildly increased

•

en:decreased serum androgens

•

en:serum lactate may be increased during encephalopathic exacerbations

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:low serum concentration of intercellular adhesion molecule 1 (icam1)

•

en:isovaleric acidemia

•

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

•

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

•

en:intermittent 3-methylglutaconic aciduria

•

en:increased urinary thymine

•

en:increased urinary taurine

•

en:increased urinary sulfatide excretion

•

en:increased urinary hydroxyisovaleric acid

•

en:increased urinary excretion of l-xylulose

•

en:increased urinary excretion of cystine

•

en:increased urinary dicarboxylic acid, transient

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:microsomal hmg-coa reductase decreased

•

en:increased urinary 2-ketoglutarate (variable)

•

en:increased transferrin saturation (>60%)

•

en:increased serum serotonin in 25%

•

en:increased serum s-adenosylhomocysteine

•

en:increased serum lactate (mild)

•

en:increased serum ige

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased serum citrulline (group b)

•

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

•

en:increased plasma progastrin

•

en:increased plasma branched-chain fatty acids

•

en:increased osmotic fragility

•

en:increased levels of carcinoembryonic antigen

•

en:low to very low hdl cholesterol

•

en:mild hyperammonemia

•

en:increased erythropoietin

•

en:some cilia show abnormal beating patterns or immotility

•

en:urine odor, maple syrup

•

en:skewed x-inactivation in females

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:uric acid normal

•

en:upregulation of alpha-interferon-stimulated genes

•

en:unprocessed 3-oxoacyl coa thiolase

•

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

•

en:transient neonatal hypocalcemia (2p21del)

•

en:thyroid hormone organification defect

•

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

•

en:spongy degeneration of brain on histology

•

en:some fragmented or disrupted golgi

•

en:shortened telomeres (1 patient)

•

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

•

en:serum and csf lactate may be increased

•

en:saposin a deficiency (finding)

•

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

•

en:reduced unsaturated serum cobalamin binding capacity

•

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

•

en:protein total decreased

•

en:positive antinuclear antibody test

•

en:no lactic acidosis

•

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

•

en:normal lactate (hcs)

•

en:normal csf neurotransmitters

•

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

•

en:nephrotic syndrome

•

en:increased iga level

•

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

•

en:increased csf lactate during acute episodes

•

en:cortisol does not decrease on dexamethasone suppression test

•

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

•

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

•

en:decreased serum thyroxine (t4)

•

en:decreased serum free thyroxine

•

en:decreased renal calcium excretion

•

en:decreased plasma glycine

•

en:decreased neopterin and biopterin in urine

•

en:decreased levels of cpt2 protein

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:decreased csf ferritin despite normal serum ferritin levels

•

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

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

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

•

en:dermatan and heparan sulfate excretion in urine

•

en:ceruloplasmin decreased

•

en:calciuria

•

en:bleeding time normal

•

en:axonemes show normal structure

•

en:aspartylglycosaminuria

•

en:anomalies of cholesterol levels

•

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

•

en:3-methylglutaric aciduria

•

en:transient neonatal hypoglycemia (2p21del)

•

en:increased creatine kinase, mild to moderate

•

en:thyroid hormones increased

•

en:structural abnormalities seen on chromosome analysis

•

en:deficiency of fructokinase

•

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

•

en:diminished lymphocyte response to phytohemaglutinin

•

en:euvolemia

•

en:increased bone-specific alkaline phosphatase

•

en:increased ammonia with exercise

•

en:inappropriately normal or increased plasma hepcidin

•

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

•

en:hyponatremia in infancy

•

en:hypoglycorrhachia (low glucose in csf)

•

en:hypogammaglobulinemia (in some patients)

•

en:hypertriglyceridemia (rare)

•

en:hyperbilirubinemia in those with liver failure

•

en:hydroxyprolinuria

•

en:glucosuria, mild, intermittent

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

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

•

en:high plasma citrulline (100-300 micromolar)

•

en:enzyme replacement therapy has not been effective

•

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

•

en:elevated urinary ornithine, lysine, arginine

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:elevated plasma cholestanol

•

en:echocardiogram abnormal

•

en:elevated liver function tests

•

en:elevated il1-beta

•

en:elevated cerebrospinal fluid (csf) protein

•

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

•

en:elevated afp (endodermal sinus tumor)

•

en:elevated 8-dehydrocholesterol

•

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

•

en:increased urinary potassium

•

en:increased urinary uracil

•

en:increased urinary thiosulfate

•

en:increased urinary orotic acid (in some patients)

•

en:increased urine porphyrins at times

•

en:low serum levels of branched-chain amino acids

•

en:in untreated patients - elevated blood galactose urine reducing substances (galactosuria), hyperchloremic metabolic acidosis, aminoaciduria, elevated liver enzymes, albuminuria

•

en:low leukocyte alkaline phosphatase activity

•

en:low or normal serum calcium

•

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

•

en:methylenetetrahydrofolate reductase deficiency

•

en:nadh-cytochrome b(5) reductase deficiency

•

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

•

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

•

en:increased csf interferon

•

en:increased urinary acetoacetic acid

•

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

•

en:increased serum vitamin b12

•

en:increased serum osteocalcin

•

en:increased serum lactate dehydrogenase (ldh)

•

en:increased serum creatine kinase during episodes

•

en:increased serum and urinary lactate

•

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

•

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

•

en:increased igm level

•

en:increased disialotransferrin and asialotransferrin levels

•

en:igg deficiency

•

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

•

en:normal ciliary structure and function

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

en:neutropenia (in 1 patient)

•

en:tsh decreased

•

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

•

en:serum c-peptide and glucagon levels measurable

•

en:hyponatremia

•

en:'rectilinear profiles' ultrastructurally in cells

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

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

•

en:tyrosinemia (transient, resolves in infancy)

•

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

•

en:transferase deficiency galactosemia

•

en:thyroid peroxidase defect

•

en:systemic amyloidosis may occur

•

en:subtelomeric deletion of chromosome 16p

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:serum triglycerides increased

•

en:serum complement decreased

•

en:serum calcitonin, increased

•

en:serum bicarbonate increased

•

en:normal number of t and b lymphocytes

•

en:serum albumin low result

•

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

•

en:rapid radioactive iodide (rai) discharge after thiocyanate or perchlorate

•

en:raised tsh level

•

en:protein urine absent

•

en:positive kveim-siltzbach skin test

•

en:pentagastrin stimulation test

•

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

•

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

•

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

•

en:no hyperphenylalaninemia

•

en:normal serum bile acids

•

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

•

en:normal or increased serum phytanic acid

•

en:hypoxia

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:coombs positive hemolytic anemia

•

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

•

en:decreased insulin receptor binding

•

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

•

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

•

en:decreased clot retraction

•

en:decreased beta-oxidation of pristanic acid

•

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

•

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

•

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:decreased acetyl-coa carboxylase activity

•

en:cystathioninuria (lab finding)

•

en:creatine phosphokinase serum increased

•

en:creatine kinase normal between episodes

•

en:chromosome 11q23.3 deletion

•

en:decreased mitochondrial complex v assembly

•

en:carnitine deficiency

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

en:ballooned neurons

•

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

•

en:aprt deficiency measured in erythrocyte lysate

•

en:aminoaciduria (in some patients)

•

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

•

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

•

en:abnormal serum transferrin pattern (in some patients)

•

en:abnormal liver enzymes during illness

•

en:4-hydroxyphenyllactic aciduria

•

en:3-methylglutaconic aciduria (3-mgc)

•

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

•

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

•

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

•

en:decreased phytanic acid oxidase activity

•

en:hypokalemia during periodic paralysis (most patients)

•

en:elevated serum transaminase levels

•

en:hypoglycemia

•

en:hyperuricosuria

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:hypercholesterolemia (disorder)

•

en:hyperammonemia

•

en:hematuria (less common)

•

en:green urine

•

en:glycosuria (less common)

•

en:glycogen storage disease type v

•

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

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

en:fibrinogen decreased

•

en:female carriers show markedly skewed x inactivation

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

en:elevated serum levels of 2-prime deoxyadenosine

•

en:decreased plasma total cholesterol

•

en:elevated sed rate

•

en:elevated plasma phytanic acid

•

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

•

en:elevated hepatic transaminases

•

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

•

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

•

en:elevated creatine kinase (in some patients)

•

en:elevated ast and ldh, especially infantile-onset

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:defects in mitochondrial oxidative phosphorylation

•

en:decreased uros activity (1 patient)

•

en:decreased serum haptoglobin (in some patients)

•

en:decreased serum factor i (atypical hus)

•

en:decreased plasminogen antigen

•

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

•

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

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:low or absent luteinizing hormone (lh)

•

en:normal renin level

•

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

•

en:normal lysl hydroxylase activity

•

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

•

en:normal collagen type i studies

•

en:normal-elevated plasma testosterone (male range)

•

en:neonatal hyperbilirubinemia

•

en:mucopolysaccharidosis type iiid

•

en:mitochondrial malic enzyme reduced

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:methylmalonic aciduria

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:long-chain ketonuria

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

en:little to absent aspartylglucosaminuria activity

•

en:large spermatozoa

•

en:karyomegaly may be found in other visceral organs

•

en:increased urinary organic acids (in some patients)

•

en:increased urinary o-linked sialopeptides

•

en:increased urinary malic acid

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:increased sodium-potassium pump activity

•

en:increased serum manganese

•

en:increased serum deoxyuridine

•

en:increased serum and urinary 2-oxoglutarate

•

en:increased serum, urinary, and csf lysine

•

en:increased il-6

•

en:increased fibroblast free sialic acid

•

en:no ketonuria

•

en:orotic acid crystalluria

•

en:increased biopterin in urine and csf

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

en:abnormal karyotype in 3 patients involving distal 6p

•

en:vitamin k deficiency

•

en:vitamin b12 deficiency (uncommon)

•

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

•

en:urine uric acid decreased

•

en:urinary loss of potassium, sodium, calcium, and chloride

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

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

•

en:t cells may be increased or decreased

•

en:tryptophanuria

•

en:translocation of chromosomes 9 and 13

•

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

•

en:transferrin saturation increased

•

en:thrombocytosis (in some patients)

•

en:serum phosphate concentration below normal

•

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

•

en:serum lactate is usually normal

•

en:serum cholesterol raised

•

en:serum c-reactive protein may be increased

•

en:serum aldosterone elevated

•

en:reduced beating amplitudes in cilia

•

en:pyruvate-induced insulin secretion

•

en:prolonged prothrombin time (pt)

•

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

•

en:premature separation of centromeric heterochromatin

•

en:platelet glycoprotein iiia deficiency

•

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

•

en:pipecolic acid accumulation.

•

en:phosphaturia may disappear after a long period of time

•

en:phosphaturia

•

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

•

en:severely decreased antigen levels of vwf and factor viii

•

en:iga antiendomysial antibodies (ema)

•

en:decreased acid beta galactosidase protein and activity

•

en:defective (ca2+) mobilization in t cells

•

en:decreased thrombospondin

•

en:decreased serum iron (in some patients)

•

en:decreased serum factor h (atypical hus)

•

en:decreased serum complement factor h

•

en:decreased serum acth

•

en:decreased plasmalogens

•

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

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

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

•

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

•

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

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:decreased activity of triosephosphate isomerase

•

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

•

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

•

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

•

en:chromosomal instability

•

en:cellular arrest at g2 of the cell cycle

•

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

•

en:bile shows increased cholesterol/phospholipid ratio

•

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

•

en:azotemia

•

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

•

en:acute hyperammonemia

•

en:acth normal

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

en:absence of peroxidase staining in neutrophils and monocytes

•

en:abnormal oral glucose tolerance

•

en:hypoxemia

•

en:deficient efflux of intracellular cholesterol

•

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

•

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

•

en:hemoglobin decreased

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:hypocitraturia

•

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

•

en:hypocalciuria or normocalciuria

•

en:hypobetalipoproteinemias

•

en:hypermethioninemia, progressive

•

en:hyperglycemia

•

en:hypercholesterolemia

•

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

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:high urinary copper

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:hepatic argininosuccinase deficiency

•

en:hemophilia b

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:hawkinsinuria

•

en:elevated serum bile acids

•

en:electrolyte disturbances from intractable diarrhea

•

en:dilated rough endoplasmic reticulum (rer)

•

en:elevated calcitonin

•

en:elevated circulating parathyroid hormone (pth) level

•

en:elevated plasma luteinizing hormone (lh)

•

en:elevated plasma ammonia

•

en:elevated serum iron

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:glutaric aciduria

•

en:folate-dependent fragile site at xq28

•

en:elevated alpha-ketoglutarate (in most patients)

•

en:fasting hyperinsulinemia

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:increased urinary catecholamines

•

en:low or absent igm levels

•

en:low plasma hdl

•

en:lower total cholesterol

•

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

•

en:ketoses, metabolic

•

en:intracellular accumulation of unesterified cholesterol

•

en:increased urinary oligosaccharides

•

en:increased urinary n-acetylated amino acids

•

en:low maximal oxygen uptake on exercise testing

•

en:increased serum direct bilirubin

•

en:increased total and conjugated bilirubin

•

en:increased tissue levels of free fatty acids

•

en:increased serum triiodothyronine (t3)

•

en:increased serum methionine

•

en:increased serum levels of free plasma thyroid hormones

•

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

•

en:increased serum beta-carotene

•

en:increased plasma renin activity

•

en:increased plasma phytanic acid

•

en:increased plasma levels of bile acid intermediates

•

en:low serum cortisol

•

en:increased plasma free cholesterol

•

en:low plasma triglyceride level

•

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

•

en:lysosomal-like storage vacuoles in various tissues

•

en:peroxisome deficiency

•

en:prothrombin time low

•

en:increased csf and plasma gaba

•

en:proteinuria (type ii, congenital)

•

en:propionic acidemia

•

en:prolonged bleeding time

•

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

•

en:polyploid sperm heads

•

en:plasma catecholamines decreased

•

en:phosphorylase kinase normal in muscle

•

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

•

en:panhypogammaglobulinemia

•

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

•

en:orotic aciduria

•

en:normal to mildly increased serum creatine kinase

•

en:normal total urinary coproporphyrin

•

en:normal prolyl 4-hydroxylase activity

•

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

•

en:normal lysyl oxidase activity

•

en:normal liver histology

•

en:normal igm levels

•

en:normal cd8+/cd4+ ratio

•

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

•

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

•

en:increased erythrocyte sedimentation rate, episodic

•

en:decreased xanthine dehydrogenase activity

•

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

•

en:decreased activity of thymidine phosphorylase

•

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

•

en:defective mitochondrial respiratory enzyme activity

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:decreased or absent serum ceruloplasmin

•

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

•

en:decreased mitochondrial complex iii activity in muscle

•

en:decreased metabolism of thiopurine drugs

•

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

•

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

•

en:decreased activity of the pdh phosphatase

•

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

•

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

•

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

•

en:chronic hypercapnia

•

en:alkaline phosphatase serum increased

•

en:adenylosuccinase deficiency (finding)

•

en:accumulation of guanidinoacetate in brain

•

en:abnormal n-glycosylation of transferrin

•

en:abnormal liver enzymes, episodic

•

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

•

en:abnormal acylcarnitine profiles

•

en:severely impaired ciliary motility

•

en:duplication or deletion at 11p15.5

•

en:elevated 3-methylcitric acid

•

en:increased cellular sensitivity to uv light

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:hypomagnesemia

•

en:hypocalciuria

•

en:hypoalphalipoproteinemia

•

en:hypoalbuminemia

•

en:hypertriglyceridemia (in some patients)

•

en:hyperoxaluria

•

en:hyperornithinemia

•

en:hyperlysinemia

•

en:hyperinsulinemia

•

en:hyperarginemia

•

en:homozygous 122kb deletion 11p15-p14

•

en:hereditary angioedema

•

en:elevated acth

•

en:glucosidase i deficiency in liver and fibroblasts

•

en:galactosuria

•

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

•

en:fibroblasts are small and rounded with prominent nucleoli

•

en:exercise-induced myoglobinuria

•

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

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:elevated il6

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:elevated csf glycine

•

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

•

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

•

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

•

en:severe hypernatremia in neonatal period

•

en:increased tissue levels of triglycerides

•

en:low cholesterol esterification rates

•

en:lactic acidosis

•

en:keratan sulfate excretion in urine that decreases with age

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:increased urine oligosaccharides

•

en:increased urinary s-sulfocysteine

•

en:increased urinary excretion of camp

•

en:increased urinary 3-methylglutaconic acid

•

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

•

en:increased tissue long-chain fatty acids

•

en:increased serum triglycerides (in some patients)

•

en:low free carnitine

•

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

•

en:increased serum lactate in acute stage

•

en:increased serum butyryl carnitine

•

en:increased serum acylcarnitine during febrile crisis

•

en:increased prv-1 (162860) mrna

•

en:increased plasma proinsulin

•

en:increased plasma pipecolic acid

•

en:increased plasma phospholipids

•

en:increased igg level

•

en:increased di- and asialo-transferrin

•

en:increased csf and plasma ghb

•

en:low csf creatine

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:increased 11-deoxycorticosterone

•

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

•

en:variable hyperlipidemia

•

en:serum iron normal

•

en:serum folate low

•

en:serum carnitine deficiency

•

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

•

en:smooth muscle antibodies positive

•

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

•

en:phytanic acid accumulation

•

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

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

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

•

en:low or low-normal serum t4

•

en:partial deficiency of factor xiii (less common)

•

en:parathyroid hormone (pth) absent to low

•

en:organic aciduria

•

en:normal serum creatine kinase

•

en:normal male karyotype (46,xy)

•

en:normal igg levels

•

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

•

en:mildly elevated urinary mevalonic acid

•

en:low serum levels of ketone bodies

•

en:low serum alpha-fetoprotein (recessive)

•

en:low plasma tryptophan (inflammatory type b)

•

en:increased c10:2-carnitine

•

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

•

en:impaired oxidation of pyruvate

•

en:antithrombin iii decreased

•

en:decreased erythrocyte plasmalogen

•

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

•

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

•

en:decreased circulating renin level

•

en:decreased circulating aldosterone level

•

en:decreased beta-mannosidase activity in plasma, fibroblasts, and leukocytes

•

en:cutaneous anergy

•

en:chronic hypoxemia

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

en:aldolase a deficiency

•

en:decreased hepatic udp-glucuronyl-transferase activity

•

en:alanine aminotransferase increased

•

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

•

en:absent 7-dehydrocholesterol

•

en:abnormal liver enzymes, intermittent

•

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

•

en:abnormal isoelectric focusing of serum transferrin

•

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

•

en:4-hydroxyphenylactic aciduria

•

en:urinary excretion of mucopolysaccharides

•

en:transient eosinophilia in first decade

•

en:hypoglycemia, fasting

•

en:decreased glomerular filtration rate (gfr)

•

en:abetalipoproteinemia (lab finding)

•

en:decreased or normal serum c3

•

en:glycogen storage disease type vi

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

en:hypercalciuria

•

en:hyperbilirubinemia

•

en:homocystinuria (in some patients)

•

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

•

en:hemizygous deletion at 4p16.3

•

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

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

en:gonadotrophin increased

•

en:hyperglycinuria (disorder)

•

en:glycinuria

•

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

•

en:decreased serum iga

•

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

•

en:defect in chylomicron secretion

•

en:defect in double-stranded dna repair

•

en:hyperkalemia during attacks

•

en:dicarboxylic aciduria

•

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

•

en:ferritin decreased

•

en:foam cells in bone marrow and renal glomeruli

•

en:fragmentation of the mitochondrial network

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:hereditary xanthinuria

•

en:high serum osmolality

•

en:hypercalciuria (in some patients)

•

en:hyperthreoninuria

•

en:hypophosphatemia (less common)

•

en:hypoproteinemia

•

en:impaired n-glycosylation

•

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

•

en:increased csf immunoglobulin levels

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

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

•

en:increased lysine in serum and csf

•

en:increased rai (radioactive iodine) uptake

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:increased serum pyruvate

•

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

•

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

•

en:increased susceptibility to ebv infection

•

en:increased urinary 2-methylbutyrylglycine

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:increased urinary creatine

•

en:increased serum thymidine

•

en:elevated plasma follicle stimulating hormone (fsh)

•

en:fluorescence of red blood cells by uv microscopy

•

en:elevated gamma-glutamyltransferase (ggt)

•

en:increased urinary isobutyryl glycine

•

en:decreased switched memory b cells

•

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

•

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

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

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

•

en:dhea sulfotransferase below limit of detection

•

en:distal xp22.3 segmental monosomy

•

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

•

en:elevated lathosterol

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated pregnenolone

•

en:elevated serum levels of adenosine

•

en:elevated urinary phosphoethanolamine

•

en:elevated white blood cell cystine

•

en:eosinophilia, mild

•

en:excessive urinary 5-oxo-l-proline

•

en:fasting ketosis

•

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

•

en:increased urinary fumaric acid

•

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

•

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

•

en:serum creatine kinase 20-70 times normal

•

en:pms show deficient oxidation of debrisoquine

•

en:positive urinary bratton-marshall test

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:proper antibody response to protein vaccinations

•

en:proteinuria in those with cystic kidneys

•

en:raised c-reactive protein

•

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

•

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

•

en:serum cholesterol low or normal

•

en:serum pristanic acid increased

•

en:no hyperuricemia

•

en:serum prolactin increased

•

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

•

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

•

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

•

en:type 1 collagen overmodification

•

en:undetectable serum l-transferrin (homozygous patient)

•

en:urine cortisol, increased

•

en:variable respiratory chain enzyme deficiency

•

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

•

en:patient cells show increased chromosome breakage

•

en:no c8 antigen detected

•

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

•

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

•

en:interstitial or terminal deletion of 18q

•

en:intracellular granular material on ultrastructural analysis

•

en:iron binding capacity total increased

•

en:ketonuria

•

en:lack of ciliary motility

•

en:leukocytosis

•

en:loss of galactose and sialic acid from multiple branches of complex type n-glycans (in some patients)

•

en:low-molecular-weight proteinuria

•

en:low density lipoprotein increased

•

en:lysyl hydroxylase deficiency

•

en:normal transferrin isoelectric profile

•

en:mean platelet volume (mpv) 12.6fl

•

en:mildly elevated acth

•

en:mildly elevated creatine phosphokinase

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:normal apoa-ii levels in homozygotes

•

en:normal concentration of parathyroid hormone

•

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

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:decreased serum vitamin a

◀

Génériques

[F] [H]

›

en:increased

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6881401 • caches: c1=24 c2=1063 c3=5

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