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

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

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

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

•

en:methionine adenosyltransferase deficiency

•

en:normal concentration of parathyroid hormone

•

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

•

en:decreased blood levels of cationic amino acids

•

en:decreased complement factor d

•

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

•

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

•

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

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:immotile or weakly motile cilia

•

en:increased serum and csf lactate

•

en:liver phosphorylase kinase (phk) deficiency

•

en:low serum levels of branched-chain amino acids

•

en:indirect bilirubin increased

•

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

•

en:elevated plasma and urine succinylacetone

•

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

•

en:increased plasma vldl, ldl

•

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

•

en:abetalipoproteinemia (lab finding)

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

en:excessive urinary 5-oxo-l-proline

•

en:echocardiogram abnormal

•

en:dicarboxylic aciduria

•

en:deficient efflux of intracellular cholesterol

•

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

•

en:anti-ssb positive

•

en:absent igg2 subclass

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:abnormal urinary oligosaccharides

•

en:decreased c3 activity

•

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

•

en:increased csf protein during acute illness

•

en:increased urinary excretion of coproporphyrin i

•

en:increased urinary sulfatides

•

en:normal blood lactate

•

en:serum corticosterone increased

•

en:long-chain ketonuria

•

en:variable hypoglycemia

•

en:generalized aminoaciduria

•

en:very low igm

•

en:increased serum creatine kinase in acute stage

•

en:hereditary angioedema

•

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

•

en:frequent deletions of chromosome 9 in melanoma

•

en:elevated plasma insulin

•

en:decreased b cells

•

en:anti-factor viii positive

•

en:borderline elevated low-density lipoprotein

•

en:abnormal igfr1 function

•

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

•

en:cystathioninuria (lab finding)

•

en:decreased or increased serum testosterone

•

en:high serum osmolality

•

en:low leukocyte alkaline phosphatase activity

•

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

•

en:normal 46,xy karyotype

•

en:normal serum liver enzymes

•

en:predominance of the d-stereoisomer

•

en:amylo-1,6-glucosidase deficiency

•

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

•

en:normal sweat electrolytes

•

en:plasma ammonia not elevated

•

en:severe thrombocytopenia (30-60 x 10(9)/l)

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:normal transferrin isoelectric profile

•

en:decreased natural killer cells

•

en:increased gamma-interferon

•

en:hematuria, gross and microscopic

•

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

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:hyperchloremia (mean 109 mm)

•

en:smooth muscle antibodies positive

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

en:elevated ast and ldh, especially infantile-onset

•

en:elevated gamma-glutamyltransferase

•

en:elevated urinary n,n-dimethylglycine (dmg)

•

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

•

en:myopathy with type i fiber atrophy on muscle biopsy

•

en:normal red cell counts

•

en:saccharopine dehydrogenase deficiency

•

en:raised tsh level

•

en:aminoaciduria, intermittent

•

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

•

en:elevated serum lactate

•

en:glycoamino aciduria

•

en:hemizygous deletion at 7q11.23

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:myelin basic protein measurement, spinal fluid

•

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

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:decreased csf ferritin despite normal serum ferritin levels

•

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

•

en:increased serum lactate hydrogenase

•

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

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:increased urinary 2-hydroxybutyrate

•

en:elevated alkaline phosphatase of bone origin

•

en:elevated 8(9)-cholestenol

•

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

•

en:calcium normal

•

en:aprt deficiency measured in erythrocyte lysate

•

en:neutral hyperaminoaciduria

•

en:increased urinary glycosphingolipids, particularly globotriaosylceramide

•

en:increased serum pyruvate

•

en:normal serum phytanic and pristanic acid

•

en:low cd4+ count

•

en:intermittent ethylmalonic aciduria

•

en:low plasma tryptophan (inflammatory type b)

•

en:elevated urinary mevalonic acid

•

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

•

en:absent 7-dehydrocholesterol

•

en:protein urine absent

•

en:phosphate normal

•

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

•

en:decreased fibroblast iduronate sulfatase

•

en:decreased monoamine oxidase a activity

•

en:decreased s-ado:saicar ratio

•

en:decreased transferrin increased serum iron

•

en:deficient fibroblast aicar-tf activity

•

en:elevated fibroblast free sialic acid

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:occasionally mild elevation of csf protein

•

en:impairment of urinary concentration

•

en:decreased axonal flare response after intradermal histamine injection

•

en:elevated crp

•

en:increased plasma lactate

•

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

•

en:low serum igg and iga

•

en:normal-elevated plasma testosterone (male range)

•

en:orotic acid crystalluria

•

en:routine liver function tests normal

•

en:increased long-chain acylcarnitine

•

en:mild eosinophilia may occur

•

en:lactic acidemia (2p21del)

•

en:increased platelet aggregation with ristocetin

•

•

en:elevated plasma alloisoleucine

•

en:decreased long-chain fatty acid oxidation

•

en:absent platelet agglutination in presence of ristocetin

•

en:absent alkyl-dhap synthase activity

•

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

•

en:decreased dna excision repair

•

en:chronic hypoxemia

•

en:decreased serum carnitine in acute stage

•

en:diminished lymphocyte response to phytohemaglutinin

•

en:fibroblasts are small and rounded with prominent nucleoli

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

•

en:increased cellular sensitivity to uv light

•

en:decreased methionine synthase activity

•

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

•

en:severely decreased palmitate oxidation

•

en:vitamin k deficiency

•

en:serum testosterone decreased

•

en:blood pyruvic acid increased

•

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

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:translocation between 18q21 and 14q32

•

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

•

en:pcs involves most of all chromosomes of a metaphase

•

en:low plasma citrulline

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:increased urinary, plasma, and csf dihydrouracil

•

en:decreased or absent pts activity

•

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

•

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

•

en:normal plasma and tissue carnitine

•

en:decreased plasmalogens

•

en:impaired platelet aggregation

•

en:decreased platelet derived growth factor

•

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

•

en:increased serum ferritin (in some patients)

•

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

•

en:increased serum ammonia (group b)

•

en:median mean platelet volume 13fl

•

en:decreased serum free thyroxine

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:elevated plasma propionylcarnitine

•

en:elevated liver function tests

•

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

•

en:hyperglutaminemia

•

en:low serum cortisol

•

en:increased urinary cortisol/cortisone ratio

•

en:increased creatinine

•

en:increased urinary magnesium

•

en:increased urinary n-acetylated amino acids

•

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

•

en:intermittent increase of urinary ethylmalonic acid

•

en:isovalerylglycinuria

•

en:ketoses, metabolic

•

en:low absolute lymphocyte count

•

en:low or absent thyrotropin (tsh)

•

en:increased serum total cholesterol

•

en:increased soluble il2 receptor

•

en:increased plasma creatine

•

en:increased serum prostaglandin e2

•

en:increased serum lactate dehydrogenase (ldh)

•

en:increased serum lactate (patient a)

•

en:increased serum fgf23

•

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

•

en:increased renal tubular phosphate reabsorption

•

en:increased lactate: pyruvate ratio (group b)

•

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

•

en:increased free erythrocyte protoporphyrin

•

en:increased fibroblast free sialic acid

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

en:increased disialo- and asialotransferrin

•

en:markedly reduced iga levels

•

en:low urinary orotic acid

•

en:positive kveim-siltzbach skin test

•

en:median mean platelet volume (mpv) 12.5fl

•

en:orotic aciduria

•

en:structural abnormalities seen on chromosome analysis

•

en:serum prolactin decreased

•

en:serum creatine kinase may be increased

•

en:serum complement decreased

•

en:serum calcium normal

•

en:reduced ige levels

•

en:reduced erythrocyte adenosine deaminase activity

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:prominent leukocytosis (30,000/ml)

•

en:prolonged partial thromboplastin time

•

en:increased bone-specific alkaline phosphatase

•

en:poor mitogenic response to growth factors

•

en:p5c levels increased in urine

•

en:organic aciduria, mild (in some patients)

•

en:methylsuccinic aciduria

•

en:no hematuria

•

en:no evidence of intrauterine infection in mother or newborn

•

en:no elevation of free fatty acids

•

en:normal transferrin saturation

•

en:normal to elevated total plasma carnitine

•

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

•

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

•

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

•

en:myoglobinuria (reported in 1 patient)

•

en:mononuclear cell noncaseating granulomatous inflammation on biopsy (lung, skin, lip)

•

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

•

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

•

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

•

en:increased chromosomal breakage

•

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

•

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

•

en:bilirubin conjugated increased

•

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

•

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

•

en:decreased fibrinogen (in some patients)

•

en:decreased eno3 activity

•

en:decreased cpt1 activity

•

en:decreased cerebrospinal fluid folic acid

•

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

•

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

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:creatine decreased

•

en:chromosome instability (hypo-/hyperdiploidy, chromosomal breaks, premature centromere division)

•

en:b lymphocytopenia

•

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

•

en:decreased mitochondrial complex v assembly

•

en:at least 2 complementation groups

•

en:antithrombin iii deficiency

•

en:antineutrophil cytoplasmic antibody

•

en:alpha fetoprotein increased

•

en:agammaglobulinemia

•

en:abnormal urinary compounds

•

en:abnormal liver function tests during pregnancy, resolves postpartum

•

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

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:abnormal cardiolipin subspecies composition

•

en:abnormal acylcarnitine profiles

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

en:decreased levels of serum vitamin b12

•

en:decreased nk cells (in some patients)

•

en:igm deficiency

•

en:ethylmalonic aciduria

•

en:hypoproteinemia due to hypercatabolism

•

en:hypophosphatemia (less common)

•

en:hyponatremia in infancy

•

en:hypoglycemia, fasting

•

en:hypocalcemia (male)

•

en:hyperglycinuria (disorder)

•

en:hereditary factor x deficiency

•

en:hepatic glycine cleavage defect

•

en:glyoxalase deficiency

•

en:folate-dependent fragile site at xq28

•

en:fluorescence of red blood cells by uv microscopy

•

en:fasting chylomicronemia

•

en:elevated serum acid phosphatase

•

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

•

en:elevated pyruvate (in most patients)

•

en:elevated csf/plasma glycine ratio

•

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

•

en:duplication or deletion at 11p15.5

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

en:deficiency of fat-soluble vitamins

•

en:decreased urinary sulfate

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

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

•

en:decreased serum levels of maoa products

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:decreased serum igm

•

en:decreased serum factor i (atypical hus)

•

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

•

en:decreased iga, igg, igm

•

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

•

en:increased urinary o-linked sialopeptides

•

en:n-glycosylation defect

•

en:mild hyperammonemia

•

en:mean platelet volume (mpv) 12.6fl

•

en:marked hypobetalipoproteinemia

•

en:march myoglobinuria

•

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

•

en:low serum acth

•

en:low ldl cholesterol

•

en:iron binding capacity total increased

•

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

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

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

•

en:increased urinary excretion of l-xylulose

•

en:normal cerebrospinal fluid

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:increased urinary 3-methylglutaconic acid

•

en:increased serum s-adenosylhomocysteine

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased serum iduronate sulfatase

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:increased plasma progastrin

•

en:increased peripheral blood monocytes

•

en:increased ige level

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:increased free cyanocobalamin in fibroblasts

•

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

•

en:increased csf pyruvic acid

•

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

•

en:normal exocrine pancreatic function

•

en:incomplete n-glycosylation of cellular proteins

•

en:round, yellow-brown dha urine crystals

•

en:urine cortisol, increased

•

en:variegated translocation mosaicism in cultured fibroblasts

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:undetectable serum l-transferrin (homozygous patient)

•

en:transcobalamin ii deficiency

•

en:thyroid hormone organification defect

•

en:thyroid dyshormonogenesis 5

•

en:t-cell deficit

•

en:shortened telomeres (1 patient)

•

en:severe amyloid angiopathy

•

en:serum transferrin glycosylation is normal

•

en:serum creatine kinase 20-70 times normal

•

en:reticulocytosis

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:reduced unsaturated serum cobalamin binding capacity

•

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

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

•

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

•

en:pms show deficient oxidation of debrisoquine

•

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:persistent ebv viremia

•

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

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

en:occasional hypomagnesemia

•

en:normal tyrosinase

•

en:increased bone serum acid phosphatase

•

en:normal lysyl hydroxylase activity

•

en:impaired creatine uptake in fibroblasts

•

en:cutaneous anergy

•

en:4-hydroxyphenylpyruvic aciduria

•

en:defect in chylomicron secretion

•

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

•

en:decreased serum complement factor h

•

en:decreased serum cholesterol (in some)

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

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

•

en:decreased or absent serum citrulline

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:decreased gtp cyclohydrolase i activity (about 20% of normal)

•

en:decreased csf hypocretin

•

en:decreased asparagine levels (in some patients)

•

en:cortisol does not decrease on dexamethasone suppression test

•

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

•

en:complex organic aciduria

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

en:chromosomal instability

•

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

•

en:carnitine palmitoyltransferase ii deficiency (25% of controls)

•

en:alpha ketoadipic aciduria

•

en:aldolase a deficiency

•

en:adrenocorticotropic hormone, increased

•

en:absent or severely reduced levels of serum immunoglobulins

•

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

•

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

•

en:hyponatremic dehydration, rarely

•

en:abacterial leukocyturia

•

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

•

en:decreased activity of nadph oxidase

•

en:electrolyte disturbances from intractable diarrhea

•

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

•

en:hypocalcemia

•

en:hypernatremia

•

en:elevated 17-hydroxyprogesterone

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:hyperalphalipoproteinemia

•

en:homocitrullinuria

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:high serum inosine levels

•

en:high m-component

•

en:hereditary fructose intolerance

•

en:hepatic lipase deficiency (disorder)

•

en:glycosuria (less common)

•

en:globulin gamma serum plasma increased result

•

en:high ebv viral load

•

en:gamma-glutamylcysteine deficiency

•

en:elevated serum phosphorus

•

en:elevated androstenedione

•

en:elevated circulating parathyroid hormone (pth) level

•

en:elevated inflammatory markers

•

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

•

en:elevated resting serum lactate, increased with exercise

•

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

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:fibronectin decreased

•

en:fumarase deficiency

•

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

•

en:fibroblasts show increased sensitivity to apoptosis

•

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

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:increased urinary 2-methylacetoacetic acid

•

en:increased urinary carnitine

•

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

•

en:increased urinary glutaric acid

•

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

•

en:increased urinary vanillylmandelic acid (vma)

•

en:karyotype analysis normal finding

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

en:low or absent growth hormone (gh)

•

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

•

en:low serum ceruloplasmin

•

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

•

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

•

en:increased creatine kinase, mild to moderate

•

en:increased serum uric acid

•

en:increased serum transferrin

•

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

•

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

•

en:increased serum glycine, leucine, isoleucine, valine

•

en:increased serum direct bilirubin

•

en:increased serum creatine kinase, mild

•

en:increased serum arylsulfatase a.

•

en:increased serum and urinary lactate

•

en:increased serum acylcarnitines

•

en:increased phytanic acid in body tissues and fluids

•

en:increased iga level

•

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

•

en:may have increased serum parathyroid hormone (pth)

•

en:impaired n-glycosylation

•

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

•

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

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:serum ferritin normal

•

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

•

en:prothrombin time low

•

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

•

en:rhabdomyolysis in response to alcohol

•

en:serum alkaline phosphatase normal or mildly increased

•

en:serum c-peptide and glucagon levels measurable

•

en:serum iron raised

•

en:pentagastrin stimulation test

•

en:sterol 27-hydroxylase deficiency

•

en:sweat test normal

•

en:tay-sachs disease

•

en:thrombocytopenia

•

en:transient neonatal hypoglycemia (2p21del)

•

en:hypogammaglobulinemia

•

en:phosphaturia (in some)

•

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

•

en:microtubule disorganization in some cilia

•

en:normal lysyl oxidase activity

•

en:mildly decreased serum creatinine

•

en:mildly prolonged bleeding time 10-12 minutes

•

en:myoglobinuria

•

en:neonatal hypocalcemia

•

en:normal erythrocyte gs activity

•

en:normal extrarenal responses to ddavp administration

•

en:normal parathyroid hormone (female)

•

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

•

en:normal sweat chloride (3 of 3 patients)

•

en:normal total urinary coproporphyrin

•

en:normal to mildly increased serum creatine kinase

•

en:no chromosome breakage

•

•

en:paradoxical increase or no change in serum aldosterone and blood pressure after dexamethasone administration

•

en:i-cell disease

•

en:aminoaciduria (rare)

•

en:hypocitraturia

•

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

•

en:decreased activities of multiple sulfatases

•

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

•

en:decreased activity of thymidine phosphorylase

•

en:decreased beta-glucosidase protein and activity

•

en:decreased csf methyltetrahydrofolate (mthf)

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:decreased galactokinase activity

•

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

•

en:decreased glutamine in bodily fluids

•

en:decreased hepatic gaba transaminase activity

•

en:decreased hexokinase activity in red blood cells

•

en:decreased mitochondrial complex iii activity in muscle

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

en:decreased or absent ciliary motility

•

en:decreased acetyl-coa carboxylase activity

•

en:cystathioninemia

•

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

•

en:absent tyrosinase activity

•

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

•

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

•

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

•

en:abnormal liver enzymes, intermittent (1 patient)

•

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

•

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

•

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

•

en:cilia show inner and outer dynein arm defects

•

en:alpha-fetoprotein normal

•

en:aminoaciduria

•

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

•

en:ballooned neurons

•

en:carnitine deficiency

•

en:cells show increased sensitivity to ionizing radiation

•

en:decreased or absent dihydropteridine reductase activity

•

en:decreased plasma arginine

•

en:hyperphenylalaninemia

•

en:hawkinsinuria

•

en:elevated serum uric acid concentrations

•

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

•

en:eosinophilia

•

en:ferritin decreased

•

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

•

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

•

en:hematuria, macroscopic and microscopic

•

en:elevated sed rate

•

en:hepatic argininosuccinase deficiency

•

en:high ornithine

•

en:homocystinuria (in some patients)

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

en:hyperkalemia during attacks

•

en:hyperoxalaemia

•

en:elevated serum parathyroid hormone (pth)

•

en:elevated plasma phytanic acid

•

en:decreased plasma lpl levels (in some patients)

•

en:deficiency or absence of p91-phox protein

•

en:decreased plasma zinc levels

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased serum haptoglobin (in some patients)

•

en:decreased serum trypsinogen

•

en:decreased thyroxine level

•

en:decreased udp-glcnac

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:elevated plasma beta-sitosterol (sitosterolemia or phytosterolemia)

•

en:disorganized growth plate cartilage

•

en:electrocardiogram abnormal

•

en:elevated ammonia

•

en:elevated biopterin in csf

•

en:elevated leukotriene e(4)

•

en:elevated liver enzymes

•

en:tsh decreased

•

en:hyposialylation of o-linked serum glycans

•

en:type i, classic, decreased antithrombin iii levels

•

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

•

en:methioninuria

•

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

•

en:leukocytosis

•

en:large spermatozoa

•

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

•

en:intermittent severe hypoglycemia (in some patients)

•

en:indirect hyperbilirubinemia

•

en:incresased urinary pyruvate

•

en:increased urinary propionyl glycine

•

en:increased urinary oxylate

•

en:increased urinary methylcitrate

•

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

•

en:increased tissue levels of triglycerides

•

en:increased susceptibility to ebv infection

•

en:increased serum lactate in acute stage

•

en:multiple autoantibodies

•

en:increased igm level

•

en:increased activity of the prpp synthetase 1 enzyme

•

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

•

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

•

en:increased csf and plasma gaba

•

en:increased csf interferon

•

en:increased histidine in blood, urine, and csf

•

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

•

en:increased serum deoxyuridine

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:increased prevalence among the native american lumbee indians

•

en:increased prv-1 (162860) mrna

•

en:increased rai (radioactive iodine) uptake

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased serum bilirubin (in some patients)

•

en:mildly elevated creatine phosphokinase

•

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

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

en:slightly increased serum alkaline phosphatase may occur

•

en:saposin a deficiency (finding)

•

en:serum cholesterol raised

•

en:serum creatine kinase may be normal or increased

•

en:serum ferritin hyperglycosylation

•

en:serum mitochondrial autoantibodies

•

en:serum triglycerides normal

•

en:spongy degeneration of brain on histology

•

en:reduced igg levels, particularly igg2 subclass

•

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

•

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

•

en:urine uric acid decreased

•

en:xanthine nephrolithiasis

•

en:ceroid lipofuscinosis, neuronal, 1

•

en:tyrosine loss

•

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

•

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

•

en:myoglobinuria with extreme exertion

•

en:normal serum lipoprotein levels

•

en:neonatal hyperbilirubinemia

•

•

en:normal csf 5-hiaa

•

en:normal csf neurotransmitters

•

en:normal plasma total homocysteine

•

en:normal serum 1,25-dihydroxyvitamin d3

•

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

•

en:pyruvate-induced insulin secretion

•

en:plasma aldosterone increased

•

en:polymorphonuclear leukocytosis, episodic

•

en:postprandial hyperglycemia (early in disease course)

•

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

•

en:proteinuria in those with cystic kidneys

•

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

•

en:inclusions contain phospholipids, phosphatidylcholine, sphingolipids, gangliosides, mucopolysaccharides

•

en:reduced serum uric acid

•

en:immunoreactive pc protein

•

en:creatine phosphokinase increased

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

en:decreased levels of the e2 subunit protein

•

en:decreased factor xi

•

en:decreased erythrocyte plasmalogen

•

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

•

en:decreased dermal hydroxylysine content

•

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

•

en:decreased csf serine

•

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

•

en:decreased agt activity

•

en:decreased activity of triosephosphate isomerase

•

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

•

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

•

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

•

en:continuous urinary iodine loss

•

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

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

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

•

en:immotile cilia

•

•

en:urinary excretion of mucopolysaccharides

•

en:very long chain fatty acid accumulation

•

en:vitamin b12 deficiency (in some patients)

•

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

•

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

•

en:absence of peroxidase staining in neutrophils and monocytes

•

en:antithrombin iii decreased

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

en:bile shows increased cholesterol/phospholipid ratio

•

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

•

en:ceruloplasmin decreased

•

en:decreased neopterin and biopterin in urine

•

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

•

en:decreased plasma apolipoprotein c-ii

•

en:hematuria (less common)

•

en:enzyme replacement therapy has not been effective

•

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

•

en:exercise-induced myoglobinuria in adults

•

en:fasting ketosis

•

en:galactosylation defects

•

•

en:high sister chromatid exchange (sce) rate

•

en:elevated sweat chloride

•

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

•

en:hyperprolinemia (10-15 times normal)

•

en:hypoalbuminemia

•

en:decreased plasma triglycerides

•

•

en:hypoglycosylated serum transferrin

•

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

•

en:hepatic argininosuccinate synthetase deficiency

•

en:elevated sepiapterin in csf

•

en:deficiency of fructokinase

•

en:decreased serum acth

•

en:decreased renal calcium excretion

•

en:decreased thrombospondin

•

en:decreased triiodothyronine level

•

en:decreased serum luteinizing hormone (lh)

•

en:defective glcnac-pi synthesis

•

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

•

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

•

en:elevated free carnitine

•

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

•

en:elevated 3-hydroxypropionic acid

•

en:elevated 7-dehydrocholesterol

•

en:elevated afp (endodermal sinus tumor)

•

en:elevated fasting glucose

•

en:mildly increased serum creatine kinase (in some patients)

•

en:mitochondrial deletions

•

en:normal arterial oxygen saturation

•

en:normal constitutional karyotype

•

en:normal prolyl 4-hydroxylase activity

•

en:normal dermal hydroxylysine content

•

en:normal or increased serum creatine kinase

•

en:normal urinary 17-ketosteroids

•

en:normal to increased plasma threonine

•

en:low copper and ceruloplasmin

•

en:increased urinary catecholamines

•

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

•

en:irregularly shaped sperm heads

•

en:iron deficiency

•

en:increased very-long chain fatty acids

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased nasal-potential difference (some)

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:increased serum lactate (in some patients)

•

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

•

en:increased plasma proglucagon

•

en:oligospermia or azoospermia

•

en:increased plasma homogentisic acid (hga)

•

en:oestradiol decreased

•

en:skewed x-inactivation in females

•

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

•

en:transaminitis

•

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

en:axonemes show normal structure

•

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

•

en:absent dystrophin on muscle biopsy

•

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

•

en:abnormal liver enzymes, intermittent

•

en:5-oxoprolinase deficiency

•

en:widespread interstitial fibrosis (visceral organs)

•

en:unresponsive to acth stimulation

•

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

•

en:severe hypernatremia in neonatal period

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:severely impaired ciliary motility

•

en:severely decreased carnitine palmitoyltransferase ii (cpt ii) activity (less than 10% of normal) in multiple tissues

•

en:serum transaminase increased

•

en:serum growth hormone increased

•

en:serum folate normal

•

en:serum calcitonin, increased

•

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

•

en:reduced erythrocyte gs activity

•

en:reduced bending capacity of cilia

•

en:reactive hypoglycemia

•

en:proteinuria (type ii, congenital)

•

en:positive urine dnph screening test

•

en:increased ck-mb

•

en:decreased neopterin and biopterin in csf

•

en:immunoglobulin a decreased

•

en:chromosome 11q23.3 deletion

•

en:decreased serum and muscle coenzyme q

•

en:decreased or normal plasma insulin

•

en:decreased grhpr activity

•

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

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

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

•

en:decreased activity of tyrosine hydroxylase

•

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

•

en:creatine phosphokinase serum increased

•

en:coarse metachromatic granules in white blood cells

•

en:chylomicronemia, refractory fasting

•

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

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:cd4/cd8 ratio decreased

•

en:azoospermia/oligospermia (present at diagnosis)

•

•

en:acute-phase reactants during fever

•

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

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

en:abnormal serum transferrin pattern (in some patients)

•

en:abnormal cholesterol homeostasis

•

en:3-methylglutaconic aciduria (3-mgc)

•

en:2-oxoadipic aciduria

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

en:decreased serum rt3

•

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

•

en:igg, elevated

•

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

•

en:iga antiendomysial antibodies (ema)

•

en:hypobetalipoproteinemias

•

en:hypertriglyceridemia (rare)

•

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

•

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

•

en:hyperbilirubinemia

•

en:homocysteinemia

•

en:high plasma triglyceride levels

•

en:hair bulbs will pigment when incubated with tyrosine

•

•

en:glutaric aciduria

•

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

•

en:direct coombs test negative

•

en:fibroblasts show decreased mitochondrial complex v activity

•

en:epstein-barr viraemia

•

en:elevated urinary delta-aminolevulinic acid

•

en:elevated urinary 2-ethylhydracrylate

•

en:elevated total iron-binding capacity

•

en:elevated total bilirubin

•

en:elevated serum transaminase levels

•

en:elevated prothrombin time

•

en:elevated plasma estrogen

•

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

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:disseminated intravascular coagulation

•

en:bicarbonaturia

•

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

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:iron overload (in some patients)

•

en:lysine-ketoglutarate reductase deficiency

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:low serum levels of ketone bodies

•

en:low serum alpha-fetoprotein (recessive)

•

en:low apolipoprotein

•

en:little to absent aspartylglucosaminuria activity

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:lactic acidemia

•

en:lactate high

•

en:lack of lysosomal inclusions in visceral organs

•

en:isovaleric acidemia

•

en:inner and outer dynein arm defects, variable

•

en:mildly elevated urinary mevalonic acid

•

en:increased urinary urate

•

en:increased urinary l-glycerate

•

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

•

en:increased urinary dicarboxylic acid, transient

•

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

•

en:increased urinary adenosine

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

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

•

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

•

en:increased serum gm-csf

•

en:increased serum bile acids

•

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

•

en:mild elevation of triglycerides

•

en:increased serum, urinary, and csf lysine

•

en:positive antinuclear antibody test

•

en:very low igg

•

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

•

en:t cells may be increased or decreased

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:systemic accumulation of very long chain fatty acids (vlcfa)

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:serum thyroxine may be decreased or normal

•

en:serum homocysteine normal

•

en:prolonged prothrombin time (pt)

•

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

•

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

•

en:platelet antibody positive

•

en:myoglobinuria after exertion

•

en:plasma protein c deficiency

•

en:parathyroid hormone normal

•

en:organic aciduria

•

en:no lactic acidosis

•

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

•

en:no evidence of common prenatal infections

•

en:no chromosomal breakage

•

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

•

en:cerebrospinal fluid lymphocytosis

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:neutrophilia, both basal and during infections

•

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

•

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

•

en:increased osmotic fragility

•

en:decreased serum factor h (atypical hus)

•

en:elevated levels of vitamin b12

•

en:elevated lathosterol

•

en:elevated gamma-glutamyltransferase (ggt)

•

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

•

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

•

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

•

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

•

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

•

en:decreased ubiquinone-10

•

en:decreased serum thiamine pyrophosphate

•

en:decreased serum iga

•

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

•

en:elevated plasma luteinizing hormone (lh)

•

en:decreased fibroblast beta-hexosaminidase

•

en:decreased csf glycine

•

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

•

en:decreased circulating aldosterone level

•

en:decreased amount and activity of mitochondrial complexes i and iv

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

en:decreased activity of mitochondrial complex i

•

en:decreased-absent intestinal mucosa lactase activity

•

en:csf pleocytosis, particularly of lymphocytes

•

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

•

en:increased lactate in spinal fluid

•

en:elevated plasma cholestanol

•

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

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:hyperglycinemia (1 patient)

•

en:increased interferon-alpha signal

•

en:elevated serum bile acids

•

en:increased ferritin

•

en:increased csf protein

•

en:increased csf lactate

•

en:increased 18-ohb to aldosterone ratio

•

en:increased 11-deoxycortisol

•

en:immunoglobulin antibodies present

•

en:hypouricemia

•

en:hypofibrinogenemia

•

en:hypertriglyceridemia (in some patients)

•

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

•

en:hypercholesterolemia (reported in 2 patients)

•

en:elevated serum levels of adenosine

•

en:elevated serum parathyroid hormone (pth) level

•

en:hyperchloridura

•

en:elevated white blood cell cystine

•

en:female carriers show markedly skewed x inactivation

•

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

•

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

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:heteroplasmic partial duplication of mtdna

•

en:hla-dqw6 association (dqb1*0602)

•

en:homozygous 122kb deletion 11p15-p14

•

en:hydrocortisone decreased

•

en:inappropriately low urine osmolality

•

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

•

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

•

en:impaired mitochondrial translation

•

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

•

en:increased il-8

•

en:increased serum manganese

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:increased plasma phospholipids

•

en:increased serum lactate (mild)

•

en:increased serum pyruvate in acute stage

•

en:hypoprebetalipoproteinemia

•

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

•

en:igg, decreased

•

en:factor viii deficiency

•

en:hypomagnesemia

•

en:glutaric acidemia type 1

•

en:increased urinary 2-oxoglutaric acid

•

en:elevated urine ceramide levels

•

en:eosinophilia, mild

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:fasting hyperinsulinemia

•

en:folic acid deficiency

•

en:glutathione deficiency

•

en:hypocholesterolemia

•

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

•

en:granular osmiophilic deposits (grod) in cells

•

en:high plasma asparagine

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:hypercalciuria (in childhood)

•

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

•

en:increased tissue long-chain fatty acids

•

en:serum cortisol decreased

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:normal collagen type i studies

•

en:very low density lipoprotein increased

•

en:uric acid normal

•

en:upregulation of alpha-interferon-stimulated genes

•

•

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

•

en:thyroid dyshormonogenesis 3

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:prolonged activated partial thromboplastin time (aptt)

•

en:platelet glycoprotein iiia deficiency

•

en:normal urinary cyclic amp response to pth administration

•

en:normal to slightly elevated plasma cholesterol

•

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

•

en:normal male karyotype (46,xy)

•

en:normal free urinary cortisol

•

en:normal axonal flare response after intradermal histamine injection

•

en:increased urinary succinic acid

•

en:low csf creatine

•

en:increased urinary tricarboxylic acid intermediates

•

en:increased urine vanillactic acid (vla)

•

en:ketoacidosis

•

•

en:liver function tests normal

•

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

•

en:low or absent follicle stimulating hormone (fsh)

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:methemoglobin concentration 12 to 19%

•

en:methylmalonic aciduria

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:mildly elevated hdl in heterozygotes

•

en:mildly increased serum lactate

•

en:mucopolysaccharidosis type iiid

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6845913 • caches: c1=8 c2=1003 c3=1

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