Le Diko - en:cytoplasmic lamellar concentric inclusions

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Le Diko - en:cytoplasmic lamellar concentric inclusions

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le dictionnaire d'associations lexicales
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en:cytoplasmic lamellar concentric inclusions

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:parathyroid hormone normal

•

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

•

en:normal plasma phytanic acid

•

en:amylo-1,6-glucosidase deficiency

•

en:cd4/cd8 ratio decreased

•

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

•

en:decreased plasma triglycerides

•

en:dicarboxylic aciduria

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:howell-jolly bodies seen in peripheral blood smear

•

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

•

en:increased urinary, plasma, and csf dihydrouracil

•

en:increased urinary free sialic acid excretion (n-acetylneuraminic acid, 5-20x normal) enlarged lysosomal vacuoles in lymphocytes and fibroblasts

•

en:low plasma hdl

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

en:phosphaturia (in some)

•

en:decreased levels of certain coagulation factors

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:proteinuria (type ii, congenital)

•

en:globulin gamma serum plasma increased result

•

en:foam cells in visceral organs and cns

•

en:elevated leukotriene e(4)

•

en:hydrocortisone decreased

•

en:decreased csf methyltetrahydrofolate (mthf)

•

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

•

en:aldosterone level increased above normal

•

en:urinary prostaglandin e

•

en:reduced platelet aggregation response to adp, collagen, epinephrine

•

en:polycythemia

•

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

•

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

•

en:enzyme replacement therapy has not been effective

•

en:galactosyltransferase i deficiency in fibroblasts

•

•

en:heparan sulfate excretion in urine

•

en:increased disialo- and asialotransferrin

•

en:lactate pyruvate ratio normal

•

en:normal dermal hydroxylysine content

•

en:normal or decreased serum potassium

•

en:normal serum cobalamin

•

en:secondary decrease of plasma free carnitine

•

en:hemoglobin f increased

•

en:type 1 collagen overmodification

•

en:thyroid hormone organification defect

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:hypoglycemia, intermittent

•

en:increased prevalence among the native american lumbee indians

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

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

•

en:decreased serum rt3

•

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

•

en:serum calcitonin, increased

•

en:thyroid hormones increased

•

en:agammaglobulinemia

•

en:decreased thrombospondin

•

en:elevated erythrocyte adenosine deaminase activity

•

•

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

•

en:premature chromosome condensation

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:decreased secretion of igf1 in response to gh administration

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:igg, decreased

•

en:multiple autoantibodies

•

en:serum testosterone level normal

•

en:cystathionine beta-synthase deficiency disease

•

en:decreased or absent serum citrulline

•

en:increased urinary catecholamines

•

en:increased serum uric acid

•

en:increased lactate: pyruvate ratio (group b)

•

en:hypernatriuria

•

en:elevated mchc

•

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

•

en:cystathioninuria (lab finding)

•

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

•

en:decreased numbers of t regulatory cells

•

en:decreased methylmalonyl-coa mutase activity

•

en:creatine decreased

•

en:alpha-fetoprotein normal

•

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

•

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

•

en:pyrimidinuria

•

en:hyperglutaminemia

•

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

•

en:vacuolated lymphocytes

•

en:aminoaciduria, intermittent

•

en:serum triglycerides normal

•

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

•

en:normal serum cobalamin (vitamin b12)

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:hyperprolinemia (10-15 times normal)

•

en:increased serum bilirubin (in some patients)

•

en:elevated liver enzymes

•

en:elevated biopterin in csf

•

en:elevated ammonia

•

en:decreased or absent dihydropteridine reductase activity

•

en:decreased acetyl-coa carboxylase activity

•

en:cytogenetic deletion of chromosome 19q13

•

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

•

en:adrenocorticotropic hormone, increased

•

en:4-hydroxyphenylacetic aciduria

•

en:absent alkyl-dhap synthase activity

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

en:decreased factor xi

•

en:fragmentation of the mitochondrial network

•

en:high ft3/ft4 ratio

•

en:increased urinary oligosaccharides

•

en:isovalerylglycinuria

•

en:decreased levels of cpt2 protein

•

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

•

en:increased il1b increased soluble il2r

•

en:reduced unsaturated serum cobalamin binding capacity

•

en:anti-factor viii positive

•

en:increased urinary dicarboxylic acid, transient

•

en:premature separation of centromeric heterochromatin

•

en:increased biliverdin in bodily fluids

•

en:fibronectin decreased

•

en:factor vii deficiency

•

en:decreased activity of galactocerebrosidase

•

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

•

en:decreased plasmalogens

•

en:dyskinetic ciliary motility

•

en:hawkinsinuria

•

en:hyperammonemia

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:increased urinary excretion of coproporphyrin i

•

en:median mean platelet volume (mpv) 20fl

•

en:oestradiol decreased

•

en:cellular arrest at g2 of the cell cycle

•

en:decreased fibroblast iduronate sulfatase

•

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

•

en:increased serum creatine kinase (1 family)

•

en:increased urinary malic acid

•

en:low or undetectable c-peptide

•

en:normal or mildly reduced sphingomyelinase activity

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:elevated urinary delta-aminolevulinic acid

•

en:hypocalcemia (male)

•

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

•

en:increased serum creatine kinase, mild

•

en:increased plasma pristanic acid

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:homocystinuria (in some patients)

•

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

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:pcs involves most of all chromosomes of a metaphase

•

en:myoglobinuria (reported in 1 patient)

•

en:low-normal igm

•

en:tenascin x deficiency (serum and fibroblasts)

•

en:increased gamma-interferon

•

en:platelet antibody positive

•

en:mean platelet volume (mpv) 12.6fl

•

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

•

en:increased plasma lactate

•

en:methylmalonic aciduria

•

en:hyperglycinemia (1 patient)

•

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

•

en:translocation between 18q21 and 14q32

•

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

•

en:5-alpha-reductase-2 enzyme deficiency

•

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

•

•

en:ballooned neurons

•

en:coombs positive hemolytic anemia

•

en:high plasma citrulline (100-300 micromolar)

•

en:low rai (radioactive iodine) uptake

•

en:normal complex ii activity

•

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

•

en:phospholipid antibody positive

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

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

•

en:serum osmolality decreased

•

en:hypercalciuria (in childhood)

•

en:variable defects of inner dynein arms

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:increased urinary 2-oxoglutaric acid

•

en:increased free cyanocobalamin in fibroblasts

•

en:serum creatine kinase 20-70 times normal

•

en:high sister chromatid exchange (sce) rate

•

en:elevated alkaline phosphatase

•

en:decreased t cells

•

en:decreased serum 25-hydroxyvitamin d

•

en:antiphospholipid antibody

•

en:low growth hormone levels

•

en:ketoses, metabolic

•

en:lactate dehydrogenase increased

•

en:lactic acidemia (2p21del)

•

en:lipopigment in extraneuronal cells

•

en:low serum levels of branched-chain amino acids

•

en:low maximal oxygen uptake on exercise testing

•

en:metabolic acidosis

•

en:low serum magnesium

•

en:low urinary cyclic amp response to pth administration

•

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

•

en:isovalericaciduria

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:increased tissue long-chain acylcarnitines

•

en:increased urine porphyrins at times

•

en:increased urinary phospholipids

•

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

•

en:increased urinary glutaric acid

•

en:increased urinary carnitine

•

en:increased serum triiodothyronine (t3)

•

en:increased serum levels of free plasma thyroid hormones

•

en:increased serum insulin-like growth factor-1 (igf1, 147740)

•

en:increased serum bilirubin due to hemolysis

•

en:increased serum and csf lactate

•

en:increased platelet aggregation with ristocetin

•

en:increased plasma phytanic acid

•

en:microtubule disorganization in some cilia

•

en:methylenetetrahydrofolate reductase deficiency

•

en:prolidase deficiency

•

en:mild hypertriglyceridemia

•

en:predominance of the d-stereoisomer

•

en:subtelomeric deletion of chromosome 16p

•

en:skewed x-inactivation in females

•

en:serum prolactin decreased

•

en:serum creatine kinase may be increased

•

en:serum corticosterone increased

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:rhabdomyolysis in response to alcohol

•

en:resistance to 1,25-dihydroxyvitamin d3

•

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

•

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

•

en:prothrombin time low

•

en:prolonged bleeding time

•

en:increased di- and asialo-transferrin

•

en:positive urine dnph screening test

•

en:neuraminidase deficiency (white blood cells, fibroblasts, cultured amniotic cells)

•

en:no elevation of free fatty acids

•

en:normal to slightly high alkaline phosphatase

•

en:normal to prolonged bleeding time

•

en:normal to mildly increased serum creatine kinase

•

en:normal to elevated total plasma carnitine

•

en:normal serum phosphorus

•

en:normal serum bile acids

•

en:normal plasma renin

•

en:normal or increased serum phytanic acid

•

en:normal number of t and b lymphocytes

•

en:normal isoelectric focusing of serum transferrin

•

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

•

en:normal cd8+/cd4+ ratio

•

en:increased free erythrocyte protoporphyrin

•

en:glucosuria, mild, intermittent

•

en:increased cerebrospinal fluid (csf) protein (>100mg/dl)

•

en:decreased asparagine levels (in some patients)

•

en:decreased serum vitamin a

•

en:decreased serum thyroxine (t4)

•

en:decreased plasminogen activity

•

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

•

en:decreased or normal serum factor i

•

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

•

en:decreased or absent apolipoprotein a-i

•

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

•

en:decreased levels of plasma factor viii

•

en:decreased fibroblast beta-hexosaminidase

•

en:decreased erythrocyte plasmalogen

•

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

•

en:decreased activity of thiopurine s-methyltransferase

•

en:decreased telomerase activity

•

en:chromosomal breakage and abnormalities of the juxtacentromeric regions of chromosomes 1, 9, and 16

•

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

•

en:at least 2 complementation groups

•

en:aminoaciduria (in some patients)

•

en:aldosterone concentration below normal

•

en:adenylosuccinase deficiency (finding)

•

en:acute-phase reactants during fever

•

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

•

en:abnormal igfr1 function

•

en:abnormal fecal fat

•

en:abnormal dystrophin on muscle biopsy

•

en:2-oxoadipic aciduria

•

en:tay-sachs disease

•

en:decreased sulfite oxidase activity

•

en:defective glcnac-pi synthesis

•

en:increased c10:2-carnitine

•

en:gonadotrophin increased

•

en:immunoglobulin a decreased

•

en:hypoglycosylation of plasma glycoproteins

•

en:hypoglycemia, fasting

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:hypercholesterolemia (10%)

•

en:hypercalciuria (in some patients)

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:hereditary factor x deficiency

•

en:hemophilia b

•

en:hemizygous deletion at 4p16.3

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

en:glycogen accumulation in both liver and muscle

•

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

•

en:glutaric aciduria

•

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

•

en:fasting ketosis

•

en:elevated white blood cell cystine

•

en:elevated serum lactate

•

en:elevated serum bile acids

•

en:elevated plasma propionylcarnitine

•

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

•

en:elevated cerebrospinal fluid (csf) protein

•

en:elevated alpha-ketoglutarate (in most patients)

•

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

•

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

•

en:electron microscopy of foam cells shows lamellar inclusions

•

en:systemic amyloidosis may occur

•

en:decreased galactokinase activity

•

en:thymic hormone decreased

•

en:increased serum creatine kinase in acute stage

•

en:low 25-oh-vitamin d level

•

en:little to absent aspartylglucosaminuria activity

•

en:ketoacidosis

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:increased urinary 2-methylbutyrylglycine

•

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

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased susceptibility to ebv infection

•

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

•

en:increased serum thyrotropin

•

en:increased serum serotonin in 25%

•

en:increased serum pyruvate in acute stage

•

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

•

en:low serum alpha-fetoprotein (recessive)

•

en:increased serum and csf glycine

•

en:increased prv-1 (162860) mrna

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:increased csf glycine

•

en:increased 11-deoxycortisol

•

en:impaired platelet aggregation

•

en:immunoglobulin antibodies present

•

en:hypouricemia

•

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

•

en:hyperkalemia

•

en:hyperchloremia (mean 109 mm)

•

en:hypercalcemia

•

en:hyperarginemia

•

en:low plasma free and total carnitine

•

en:medium chain dicarboxylic aciduria

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:normal serum phytanic and pristanic acid

•

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

•

en:tsh decreased

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:thrombocytosis (in some patients)

•

en:t-cell deficit

•

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

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

en:raised c-reactive protein

•

en:prolonged prothrombin time (pt)

•

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

•

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

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:normal pyridinoline excretion in urine

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

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

•

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

•

en:normal plasma total homocysteine

•

en:normal phytanic acid

•

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

•

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

•

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

•

en:normal csf 5-hiaa

•

en:normal baseline cortisol

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:myoglobinuria with extreme exertion

•

en:mild elevation of cholesterol

•

en:mildly elevated hdl in heterozygotes

•

en:high ebv viral load

•

en:low or absent iga levels

•

en:granular osmiophilic deposits (grod) in cells

•

en:absent anti-insulin receptor antibodies

•

en:decreased hdl cholesterol

•

en:decreased fibroblast arylsulfatase a

•

en:decreased fibrinogen (in some patients)

•

en:decreased cpt1 activity

•

en:decreased clot retraction

•

en:decreased beta-oxidation of pristanic acid

•

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

•

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

•

en:csf pleocytosis, particularly of lymphocytes

•

en:bicarbonaturia

•

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

•

en:alanine aminotransferase increased

•

en:absent 7-dehydrocholesterol

•

en:decreased hexokinase activity in red blood cells

•

en:absence of cpt ii protein

•

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

•

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

•

en:abnormal liver enzymes (1 patient)

•

en:abnormal eeg in 25% hospitalized patients

•

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

•

en:3-methylglutaric aciduria

•

en:'rectilinear profiles' ultrastructurally in cells

•

en:laboratory abnormalities

•

en:variegated translocation mosaicism in cultured fibroblasts

•

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

•

en:variably decreased activity of mitochondrial respiratory complexes i, iii, iv, and v in fibroblasts and muscle

•

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

•

en:decreased hepatic gaba transaminase activity

•

•

en:decreased insulin receptor binding

•

en:defect in dna repair

•

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

•

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:fibrinogen decreased

•

en:elevated urinary epinephrine

•

en:elevated serum phosphate in heterozygotes

•

en:elevated plasma estrogen

•

en:elevated fibroblast free sialic acid

•

en:elevated erythrocyte adenosine deaminase (eada)

•

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

•

en:elevated 8(9)-cholestenol

•

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

•

en:defect in mitochondrial and peroxisomal fission

•

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

•

en:defects in mitochondrial oxidative phosphorylation

•

en:decreased ldl cholesterol

•

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

•

en:defective bile acid metabolism

•

en:decreased levels of serum vitamin b12

•

en:decreased metabolism of thiopurine drugs

•

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

•

en:decreased neopterin and biopterin in csf

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:decreased or absent steroid sulfatase activity

•

en:decreased plasma free carnitine

•

en:decreased serum factor i (atypical hus)

•

en:decreased xanthine dehydrogenase activity

•

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

•

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

•

en:increased plasma free cholesterol

•

en:increased plasma proglucagon

•

en:increased pristanic acid

•

en:increased serum c26-bile-acid intermediates

•

en:increased serum alanine (1 patient)

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

en:increased serum total cholesterol

•

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

•

en:increased serum osteocalcin

•

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

•

en:hypermagnesemia

•

en:increased ck-mb

•

en:increased bone-specific alkaline phosphatase

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

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

•

en:immediate (type i) skin test reactivity

•

en:igm deficiency

•

en:hypoketotic hypoglycemia

•

en:hypoglycorrhachia (low glucose in csf)

•

en:hyperthreoninuria

•

en:hyperphenylalaninemia

•

en:hypermethioninemia, progressive

•

en:hyperbilirubinemia in those with liver failure

•

en:increased urinary 2-methylbutyryl glycine

•

en:hypercholesterolemia

•

en:increased tissue levels of free fatty acids

•

en:poor mitogenic response to growth factors

•

en:increased urinary citric acid cycle intermediates

•

en:normal iga levels

•

en:hereditary xanthinuria

•

en:prolonged prothrombin and partial thromboplastin times

•

en:prolonged partial thromboplastin time

•

en:phosphorylase kinase normal in muscle

•

en:patient cells have increased levels of lmnb1 mrna and protein

•

en:partial deficiency of factor xiii(c)

•

en:osteocalcin increased

•

en:normal urinary orotic acid

•

en:normal urinary 17-ketosteroids

•

en:normal serum 25-hydroxyvitamin d3

•

en:normal plasma and tissue carnitine

•

en:normal or mildly decreased arylsulfatase a activity

•

en:normal igm levels

•

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

•

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

•

en:normal arterial oxygen saturation

•

en:neonatal hypocalcemia

•

en:mildly elevated blood ammonia

•

en:microdeletion of chromosome 11q13 (43-490kb)

•

en:marked elevation of erythrocyte sedimentation rate

•

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

•

en:low or normal serum calcium

•

en:low or absent thyrotropin (tsh)

•

en:low-to-normal csf lactate

•

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

•

en:leukotriene c4 synthetase deficiency

•

en:keratan sulfaturia in some patients

•

en:increased very-long chain fatty acids

•

en:increased urinary lactate

•

en:high plasma triglyceride levels

•

en:abnormal liver enzymes, intermittent (1 patient)

•

en:hepatic ornithine transcarbamylase deficiency

•

en:cells show increased sensitivity to ionizing radiation

•

en:decreased levels of the e2 subunit protein

•

en:decreased glycerol kinase activity

•

en:decreased csf glycine

•

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

•

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

•

en:decreased c3 antigen

•

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

•

en:decreased activity of nadph oxidase

•

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

•

en:decreased activity of mitochondrial complex i

•

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

•

en:decreased acid beta galactosidase protein and activity

•

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

•

en:blood urea nitrogen increased

•

en:decreased nasal nitric oxide

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:anti-iga antibodies commonly present

•

en:aminoaciduria, mild (in some patients)

•

en:aminoaciduria

•

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

•

en:absence of outer dynein arms

•

en:abnormal transferrin isoelectric focusing (ief)

•

en:abnormal serum transferrin pattern (in some patients)

•

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

•

en:abnormal n-glycosylation of transferrin

•

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

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:aberrant gamma-interferon-mediated inflammation

•

en:serum albumin low result

•

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

•

en:decreased neopterin and biopterin in urine

•

•

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

•

en:glomerular filtration rate decreased

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:elevated serum transaminases during infections

•

en:elevated serum levels of adenosine

•

en:elevated resting serum lactate, increased with exercise

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated plasma luteinizing hormone (lh)

•

en:elevated liver function tests

•

en:elevated crp

•

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

•

en:elevated 7-dehydrocholesterol

•

en:echocardiogram abnormal

•

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

•

en:dilated rough endoplasmic reticulum (rer)

•

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

•

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

•

en:deficient efflux of intracellular cholesterol

•

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

•

en:defective dna repair

•

en:decreased whole blood serotonin

•

en:decreased urinary calcium and phosphate excretion

•

en:decreased ubiquinone-10

•

en:decreased tissue and serum alkaline phosphatase

•

en:decreased serum bun

•

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

•

en:decreased renal calcium excretion

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:decreased plasma esterified cholesterol

•

en:decreased or absent udp-glucuronyl-transferase activity

•

en:propionic acidemia

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:serum alkaline phosphatase normal or mildly increased

•

en:increased csf threonine

•

en:increased urine oligosaccharides

•

en:increased urinary taurine

•

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

•

en:increased urinary hga

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased total bilirubin may occur

•

en:increased tissue levels of triglycerides

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased serum lactate, particularly after exercise

•

en:increased serum glycerol

•

en:increased serum citrulline (group b)

•

en:increased serum 1,25-dihydroxyvitamin d

•

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

•

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

•

en:keratan sulfate excretion in urine that decreases with age

•

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

•

en:increased beta-alanine (in 1 of 2 patients)

•

en:increased 18-ohb to aldosterone ratio

•

en:hypocalcemia

•

en:hyperuricosuria

•

en:hypertryptophanemia

•

en:hyperthreoninemia

•

en:hyperchloridura

•

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

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:high m-component

•

en:hemizygous deletion at 7q11.23

•

•

en:isochromosome often missing in lymphocyte

•

•

en:glycogen storage disease type vii

•

en:pipecolic acid accumulation.

•

en:serum ammonia increased

•

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

•

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

•

en:spongy degeneration of brain on histology

•

en:shortened telomeres (1 patient)

•

en:serum thyroxine may be decreased or normal

•

en:serum creatine kinase may be normal

•

en:serum cholesterol raised

•

en:serum carnitine deficiency

•

en:secondary decreases in complex i and iv activity

•

en:renin decreased

•

en:reduced erythrocyte glucose/hexose transport

•

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

•

en:patient cells show defective dna repair in response to irradiation and free radical damage

•

en:low acth level

•

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

•

en:normal tyrosinase

•

en:normal transferrin isoelectric profile

•

en:normal to mildly increased mucopolysacchariduria

•

en:normal serum folate levels

•

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

•

en:mild elevation of triglycerides

•

en:mildly increased serum lactate

•

en:mildly elevated urinary mevalonic acid

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:median mean platelet volume (mpv) 18fl

•

en:marked hypobetalipoproteinemia

•

en:markedly reduced igg levels

•

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

•

en:gm2-ganglioside accumulation

•

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

•

en:glycogen storage disease type v

•

en:abnormal urinary organic acids

•

en:complex organic aciduria

•

en:cilia may also be static, with slow activity

•

en:chronic hypoxemia

•

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

•

en:chondroitin 6-sulfate excretion in urine

•

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

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:aspartylglycosaminuria

•

en:antineutrophil antibody positivity

•

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

•

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

•

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

•

en:absence of cd59 expression on red cells

•

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

•

en:decreased activity of complement factor d

•

en:abnormal liver function tests (sgot, sgpt)

•

en:abnormal liver enzymes (rare)

•

en:abnormal isoelectric focusing of serum transferrin

•

en:abacterial leukocyturia

•

en:3-methylglutaconic aciduria

•

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

•

en:urine osmolarity decreased

•

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

•

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

•

en:transferase deficiency galactosemia

•

en:transaminitis

•

en:serum iron raised

•

en:serum creatine kinase may be normal or elevated

•

en:glutathione deficiency

•

en:decreased activities of multiple sulfatases

•

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

•

en:decreased activity of phosphoglycerate kinase 1

•

en:elevated plasma alloisoleucine

•

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

•

en:gamma-glutamylcysteine deficiency

•

en:decreased antithrombin iii (rare)

•

en:fumarase deficiency

•

•

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

•

en:female carriers show markedly skewed x inactivation

•

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

•

en:elevated sweat chloride (some)

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:elevated serum alpha-fetoprotein

•

en:elevated plasma phytanic acid

•

en:elevated plasma galactose (galactosemia)

•

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

•

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

•

en:decreased csf pyridoxal 5-prime-phosphate (plp)

•

en:decreased blood levels of cationic amino acids

•

en:decreased complement factor d

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased cerebrospinal fluid folic acid

•

en:decreased csf arginine

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

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

•

en:decreased serum trypsinogen

•

en:decreased beta-glucosidase protein and activity

•

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

•

en:decreased tissue total and free carnitine

•

en:decreased von willebrand factor

•

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

•

en:infantile hypophosphatasia

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:low serum alkaline phosphatase in heterozygotes

•

en:low cd4+ count

•

en:low copper and ceruloplasmin

•

en:low csf creatinine

•

en:low plasma citrulline

•

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

•

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

•

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

•

en:increased urinary cortisol/cortisone ratio

•

en:increased serum vitamin b12

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:increased serum thrombopoietin may occur

•

en:increased serum s-adenosylmethionine

•

en:increased serum methionine

•

en:increased serum lactate dehydrogenase (ldh)

•

en:increased serum lactate (in some patients)

•

en:increased serum creatine kinase in patients with muscle involvement

•

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

•

en:methylsuccinic aciduria

•

en:increased renal tubular phosphate reabsorption

•

en:increased plasma long-chain acylcarnitines

•

en:methionine adenosyltransferase deficiency

•

en:pentagastrin stimulation test

•

en:mildly elevated hepatic enzymes

•

en:plasma catecholamines decreased

•

en:variable hypoglycemia

•

en:increased il6, episodic

•

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

•

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

•

en:smooth muscle antibodies positive

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:serum testosterone decreased

•

en:serum chloride level decreased (finding)

•

en:serum c-peptide and glucagon levels measurable

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:prominent leukocytosis (30,000/ml)

•

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

•

en:mildly prolonged bleeding time 10-12 minutes

•

en:patient cells show defective transcription-coupled and global genome nucleotide excision repair (ner)

•

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

•

•

en:normal transferrin saturation

•

en:normal serum plasmalogen

•

en:normal lysyl oxidase activity

•

en:normal ciliary structure and function

•

•

en:nadh-cytochrome b(5) reductase deficiency

•

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

•

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

•

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

•

en:decreased serum iron (in some patients)

•

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

•

en:contiguous gene deletion syndrome

•

en:decreased serum complement factor h

•

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

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:decreased iga, igg, igm

•

en:decreased csf hypocretin

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

en:decreased activity of mitochondrial respiratory chain complex i

•

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

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:creatine phosphokinase serum increased

•

en:chylomicronemia, refractory fasting

•

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

•

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

•

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

•

en:broad tissue deposition of amylopectin-like material

•

en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria

•

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

•

en:absent ch50 activity in complete c4 deficiency

•

en:absence of chylomicrons in lymph and plasma

•

en:abnormal serum glycoproteins

•

en:abnormal nuclear morphology

•

en:abnormal liver function tests during pregnancy, resolves postpartum

•

en:abetalipoproteinemia (lab finding)

•

en:decreased serum thiamine pyrophosphate

•

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

•

en:increased csf lactate during acute episodes

•

en:gaucher disease, type 1

•

en:increased alpha-fetoprotein (1 patient)

•

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

•

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

•

en:hypophosphatemia (less common)

•

en:hyperprostaglandinuria

•

en:hyperglycemia

•

en:hyperchloremia (mean 111 mm)

•

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

•

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

•

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

•

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

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:dhea sulfotransferase below limit of detection

•

en:elevated urine ceramide levels

•

en:elevated urinary mevalonic acid

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:elevated testosterone

•

en:elevated serum transferrin saturation

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:elevated pth (parathyroid hormone)

•

en:elevated plasma and urine succinylacetone

•

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

•

en:elevated blood spot hydroxybutyryl carnitine

•

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

•

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

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:decreased nk cells (in some patients)

•

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

•

en:low serum uric acid

•

en:normal igg levels

•

en:normal concentration of parathyroid hormone

•

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

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:mild to moderate hyperammonemia

•

en:mild hyperammonemia

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:microduplication of chromosome 5p13

•

en:march myoglobinuria

•

en:lysyl hydroxylase deficiency

•

en:low or absent follicle stimulating hormone (fsh)

•

en:normal male karyotype (46,xy)

•

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

•

en:liver function tests normal

•

en:intermittent ethylmalonic aciduria

•

en:increased urinary o-linked sialopeptides

•

en:increased urinary l-glycerate

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

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

•

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

•

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

•

en:increased urinary adenosine

•

en:increased transferrin saturation (>60%)

•

en:normal lysl hydroxylase activity

•

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

•

en:increased sensitivity to adrenergic and cholinergic agents

•

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

•

en:mucolipidosis type iv

•

en:very low leptin level

•

en:very low igg

•

en:very low density lipoprotein increased

•

en:urine cortisol, increased

•

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

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:undetectable serum l-transferrin (homozygous patient)

•

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

•

en:abnormal columnization of chondrocytes

•

en:thyroid dyshormonogenesis 3

•

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

•

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

•

en:rheumatoid factor negative

•

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

•

en:pyruvate-induced insulin secretion

•

en:plasma ammonia not elevated

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

en:no mucopolysacchariduria

•

en:no dicarboxylic aciduria

•

en:normal to increased plasma glycine

•

en:normal serum lipoprotein levels

•

en:normal serum biotin concentration

•

en:normal renin level

•

en:increased serum ammonia (group b)

•

en:transferrin saturation increased

•

en:increased plasma progastrin

•

en:decreased c3 activity

•

en:decreased transferrin increased serum iron

•

en:decreased thyroxine level

•

en:decreased sulfite oxidase activity in fibroblasts

•

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

•

en:decreased serum c3 (atypical hus)

•

en:decreased or absent pts activity

•

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

•

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

•

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

•

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

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:decreased activity of tyrosine hydroxylase

•

en:deficiency of fat-soluble vitamins

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

en:ceruloplasmin decreased

•

en:cd4+/cd8+ ratio often reversed

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

en:bleeding time normal

•

en:androgens increased

•

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

•

en:abnormal phospholipid profile

•

en:abnormal oral glucose tolerance

•

en:abnormal karyotype in 3 patients involving distal 6p

•

en:increased plasma branched-chain fatty acids

•

en:decreased uros activity (1 patient)

•

en:anomalies of cholesterol levels

•

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

•

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

•

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

•

en:electrolyturia (1 patient)

•

en:increased blood alanine

•

en:hyponatremic dehydration, rarely

•

en:hypogammaglobulinemia, profound

•

en:hyperlactemia

•

en:hyperinsulinemia

•

en:hyperammonemia, episodic

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:heparin cofactor ii deficiency (disorder)

•

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

•

en:hypoglycosylated serum transferrin

•

en:ethylmalonic aciduria

•

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

•

en:eosinophilia

•

en:elevated 2-ketoglutarate (urine)

•

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

•

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

•

en:elevated ast and ldh, especially infantile-onset

•

en:elevated liver transaminases

•

en:elevated plasma levels of lp(a)

•

en:elevated plasma stigmasterol

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:elevated total bilirubin

•

en:elevated 1,25(oh)2 d3

•

en:iiga and igg antigliadin antibodies (aga)

•

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

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

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

•

en:increased csf protein

•

en:increased excretion of urobilinogen

•

en:increased lactate in spinal fluid

•

en:increased lysine in serum and csf

•

en:increased peripheral blood monocytes

•

en:increased serum triglycerides (in some patients)

•

en:increased serum ferritin (in some patients)

•

en:increased serum lactate in acute stage

•

en:increased serum manganese

•

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

•

en:increased tissue long-chain fatty acids

•

en:increased urinary 2-butanone

•

en:increased urinary and serum glycine

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:increased urinary excretion of cystine

•

en:igg deficiency

•

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

•

en:hypofibrinogenemia

•

en:elevated serum protein

•

en:intermittent severe hypoglycemia (in some patients)

•

en:decreased or absent ciliary motility

•

en:decreased or absent histidase activity

•

en:decreased or increased serum testosterone

•

en:decreased tetrasialotransferrin levels

•

en:direct coombs test negative

•

en:elevated csf glycine

•

en:elevated erythrocyte aicar (zmp)

•

en:folic acid deficiency

•

en:hypoalphalipoproteinemia

•

en:glucose-6-phosphate deficiency

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:hepatic argininosuccinate synthetase deficiency

•

en:homocitrullinuria

•

en:homocystinuria

•

en:hyperlysinemia

•

en:hyperornithinemia

•

en:hyperoxaluria

•

en:hyperphosphatemia

•

en:increased urine vanillactic acid (vla)

•

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

•

en:iodide organification defect

•

en:serum copper decreased

•

en:postprandial hyperglycemia (early in disease course)

•

en:primary immunoglobulin-related amyloidosis (al)

•

•

en:protein total decreased

•

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

•

en:reduced beating amplitudes in cilia

•

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

•

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

•

en:serum cortisol decreased

•

en:platelet glycoprotein iiia deficiency

•

en:serum creatine kinase may be normal or increased

•

en:serum pristanic acid increased

•

en:severely decreased palmitate oxidation

•

en:shortened telomeres (in 1 of 2 patients)

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:telomere shortening

•

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

•

•

en:t cells may be increased or decreased

•

en:positive urinary bratton-marshall test

•

en:phytanic acid accumulation

•

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

•

en:low to normal serum calcium

•

en:karyomegaly may be found in other visceral organs

•

en:lactate high

•

en:leukocytosis

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:low-molecular-weight proteinuria

•

en:low density lipoprotein increased

•

en:low plasma arginine

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:low serum calcium

•

en:methemoglobin concentration 12 to 19%

•

en:paraproteinemia

•

en:mild-moderate prolonged bleeding time

•

en:mildly elevated acth

•

en:myoglobinuria after exertion

•

en:normal-elevated plasma testosterone (male range)

•

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

•

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

•

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

•

en:no evidence of perinatal infection

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:decreased nasal nitric oxide (in some patients)

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846400 • caches: c1=8 c2=1003 c3=1

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