Le Diko - en:decreased mitochondrial complex iii activity in liver and fibroblasts

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Le Diko - en:decreased mitochondrial complex iii activity in liver and fibroblasts

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le dictionnaire d'associations lexicales
contributif et libre de JeuxDeMots

(id=6846563)

en:decreased mitochondrial complex iii activity in liver and fibroblasts

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:very low leptin level

•

en:very low igg

•

en:undetectable serum l-transferrin (homozygous patient)

•

en:prothrombin time increased

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:low cholesterol esterification rates

•

en:incresased urinary pyruvate

•

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

•

en:increased lysine in serum and csf

•

en:decreased serum cobalamin

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:serum chloride level decreased (finding)

•

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

•

en:reduced total and free carnitine in plasma and tissue

•

en:low plasma hdl

•

en:iron deficiency

•

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

•

en:high urinary orotic acid

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:absent axonal flare response after intradermal histamine injection

•

en:abnormal serum transferrin pattern (in some patients)

•

en:2-oxoadipic aciduria

•

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

•

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

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:mitochondrial respiratory chain defects (skeletal muscle, fibroblasts)

•

en:mitochondrial malic enzyme reduced

•

en:lack of lysosomal inclusions in visceral organs

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:hypofibrinogenemia

•

en:hyperglycemias, postprandial

•

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

•

en:decreased dermal hydroxylysine content

•

en:decreased asparagine levels (in some patients)

•

en:abetalipoproteinemia (lab finding)

•

en:4-hydroxyphenylpyruvic aciduria

•

en:transient neonatal hypoglycemia (2p21del)

•

en:serum c-peptide and glucagon levels measurable

•

en:predominance of the d-stereoisomer

•

en:microscopic hematuria

•

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

•

en:increased serum parathyroid hormone (pth)

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

en:increased plasma creatine

•

en:increased hepatic parenchymal cell stainable iron

•

en:hyperglycinemia

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:elevated erythrocyte adenosine deaminase

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

en:aminoaciduria (rare)

•

en:absent platelet agglutination in presence of ristocetin

•

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

•

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

•

en:serum mitochondrial autoantibodies

•

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

•

en:platelet antibody positive

•

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

•

en:intracellular granular material on ultrastructural analysis

•

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

•

en:exercise-induced myoglobinuria

•

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

•

en:deficiency of alpha-1,4-glucosidase (acid maltase)

•

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

•

en:acylglycinuria

•

en:2-aminoadipic aciduria

•

en:serum osmolality decreased

•

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

•

en:normal to prolonged bleeding time

•

en:normal serum erythropoietin (epo, 133170)

•

en:loss of ciliary beat coordination

•

en:increased iga level

•

en:iga antiendomysial antibodies (ema)

•

en:elevated hcg (choriocarcinoma)

•

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

•

en:decreased mucosal alkaline phosphatase

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:decreased aminoacylase-1 activity

•

en:serum and csf lactate may be increased

•

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

•

en:prolonged activated partial thromboplastin time (aptt)

•

en:plasma protein c deficiency

•

en:parathyroid hormone (pth) absent to low

•

en:neutrophilia, both basal and during infections

•

en:increased excretion of urobilinogen

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

en:hypocalcemia

•

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

•

en:decreased von willebrand factor

•

en:decreased plasma free carnitine

•

en:type iii collagen defect

•

en:serum creatinine raised

•

en:serum creatine kinase may be normal or elevated

•

en:low growth hormone levels

•

en:increased urinary mannose-containing oligosaccharides

•

en:elevated ferritin l subunit

•

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

•

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

•

en:decreased serum acth

•

en:decreased renal calcium excretion

•

en:decreased or normal serum factor i

•

en:abnormal spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and brainstem

•

en:slightly increased serum alkaline phosphatase may occur

•

en:normal urinary cyclic amp response to pth administration

•

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

•

en:increased urinary isobutyryl glycine

•

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

•

en:immotile cilia

•

en:homocitrullinuria

•

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:decreased beta-thromboglobulin

•

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

•

en:polyploid sperm heads

•

en:increased urinary 3-methylcrotonylglycine

•

en:increased total and conjugated bilirubin

•

en:increased plasma long-chain acylcarnitines

•

en:increased phytanic acid in body tissues and fluids

•

en:hyperammonemia

•

en:heparan sulfate excretion in urine

•

en:elevated d-2-hydroxyglutaric acid (urine, plasma, csf)

•

en:decreased serum leptin

•

en:decreased serum cholesterol (in some)

•

en:cd4+/cd8+ ratio is reversed

•

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

•

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

•

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

•

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

•

en:iodide organification defect

•

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

•

en:elevated hepatic transaminases

•

en:decreased or absent pts activity

•

en:decreased csf ferritin despite normal serum ferritin levels

•

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

•

en:routine liver function tests normal

•

en:low or absent igm levels

•

en:increased urinary dihydropyrimidines

•

en:hypertriglyceridemia (rare)

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:electron microscopy of foam cells shows lamellar inclusions

•

en:decreased serum thyroxine (t4)

•

en:anti-tissue transglutaminase antibodies (anti-ttg)

•

en:vitamin k deficiency

•

en:urine odor, maple syrup

•

en:serum triglycerides normal

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:no mucopolysacchariduria

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:normal cerebrospinal fluid

•

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

•

en:multiple autoantibodies

•

en:mild-moderate prolonged bleeding time

•

en:increased serum citrulline (group b)

•

en:hyponatremia

•

en:decreased or increased serum testosterone

•

en:decreased nasal nitric oxide (in some patients)

•

en:decreased glycerol kinase activity

•

en:decreased activity of 2-oxoacid dehydrogenases

•

en:cytogenetic deletion of chromosome 19q13

•

en:prolonged prothrombin and partial thromboplastin times

•

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

•

en:low or absent prolactin (pl)

•

en:iodine depletion

•

en:increased urinary cortisol/cortisone ratio

•

en:hypergammaglobulinemia

•

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

•

en:defect in retrograde intraflagellar transport in cilia

•

en:anti-iga antibodies commonly present

•

en:t-cell deficit

•

•

en:normal-elevated plasma testosterone (male range)

•

en:low plasma free and total carnitine

•

en:low or undetectable c-peptide

•

en:increased urinary carnitine esters

•

en:increased serum 1,25-dihydroxyvitamin d

•

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

•

en:glycogen storage disease type vii

•

en:elevated urinary pge(2) levels

•

en:elevated serum protein

•

en:elevated plasma stigmasterol

•

en:decreased udp-glcnac

•

en:decreased or absent gch1 activity

•

en:absent axonal flare response to intradermal histamine injection

•

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

•

en:serum cholesterol normal

•

en:normal red cell counts

•

en:normal constitutional karyotype

•

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

•

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

•

en:increased serum pyruvate, mild

•

en:hyperlipoproteinemia type iib

•

en:elevated plasma cholestanol

•

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

•

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

•

en:d-2-hydroxyglutaric aciduria

•

en:cerebrospinal fluid oligoclonal bands

•

en:very low density lipoprotein increased

•

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

•

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

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:t cells may be increased or decreased

•

•

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

•

en:transferrin saturation increased

•

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

•

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

•

en:some fragmented or disrupted golgi

•

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

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

en:serum transferrin glycosylation is normal

•

en:serum prolactin increased

•

en:serum cholesterol raised

•

en:serum carnitine deficiency

•

en:serum bilirubin increased

•

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

•

en:reduced serum uric acid

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

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

•

en:pms show deficient oxidation of debrisoquine

•

en:platelet factor 4 decreased

•

•

en:phytanic acid accumulation

•

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

•

en:partial deficiency of factor xii(c)

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:no evidence of common prenatal infections

•

en:no dicarboxylic aciduria

•

en:normal tyrosinase

•

en:normal to mildly increased mucopolysacchariduria

•

en:normal to increased plasma glycine

•

en:normal serum transferrin profiles

•

en:normal or mildly reduced sphingomyelinase activity

•

en:normal lysl hydroxylase activity

•

en:normal collagen type i studies

•

en:normal baseline cortisol

•

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

•

•

en:mucopolysaccharidosis type iiid

•

en:monomeric igm

•

en:mildly elevated urinary mevalonic acid

•

en:mildly elevated hdl in heterozygotes

•

en:mildly elevated acth

•

en:medium chain dicarboxylic aciduria

•

en:low serum uric acid

•

en:low serum igg and iga

•

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

•

en:low or low-normal serum t4

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:low level of c4 and c2

•

en:low ldl cholesterol

•

en:leukocytosis

•

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:increased urinary sulfatide excretion

•

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

•

en:increased urinary malic acid

•

en:increased urinary l-glycerate

•

en:increased urinary excretion of l-xylulose

•

en:increased urinary creatine

•

en:increased urinary adenosine

•

en:increased transferrin saturation (>60%)

•

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

•

en:increased serum thyrotropin

•

en:increased serum serotonin in 25%

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:increased serum lipoproteins

•

en:increased serum lactate (mild)

•

en:increased serum gm-csf

•

en:increased serum ammonia (group b)

•

en:increased plasma vldl, ldl

•

en:increased plasma branched-chain fatty acids

•

en:increased peripheral blood monocytes

•

en:increased intracellular fmrp mrna

•

en:increased il-8

•

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

•

en:increased disialotransferrin and asialotransferrin levels

•

en:increased circulating renin level

•

en:increased bone serum acid phosphatase

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:hypocalcemia (64% of adults)

•

en:hyperprolinemia type 1

•

en:hyperkalemia

•

en:hyperinsulinemia

•

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

•

en:high ebv viral load

•

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

•

en:galactosylation defects

•

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

•

en:fumarase deficiency

•

en:folic acid deficiency

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

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

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

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

•

en:elevated sweat chloride (some)

•

en:elevated serum levels of 2-prime deoxyadenosine

•

en:elevated sed rate

•

en:elevated pyruvate (in most patients)

•

en:elevated plasma alloisoleucine

•

en:elevated plasma acth

•

en:elevated long chain fatty acids

•

en:elevated leukotriene e(4)

•

en:elevated dihydrobiopterin in csf

•

en:elevated acth

•

en:electron microscopy of patient respiratory cells shows reduced inner dynein arms and nexin links

•

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

•

en:di- and trihydroxycholestanoic acid accumulation

•

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

•

en:deficiency of fat-soluble vitamins

•

en:decrease plasma serine (fasting)

•

en:decreased uros activity (1 patient)

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:decreased serum igm

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased serum ceruloplasmin

•

en:decreased serum c3 (atypical hus)

•

en:decreased serum b12 levels

•

en:decreased serum 25-hydroxyvitamin d

•

en:decreased plasma total cholesterol

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

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

•

en:decreased neopterin and biopterin in csf

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

en:decreased methylmalonyl-coa mutase activity

•

en:decreased methionine synthase activity

•

en:decreased hepatic udp-glucuronyl-transferase activity

•

en:decreased glomerular filtration rate (gfr)

•

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

•

en:decreased fibroblast alpha-mannosidase

•

en:decreased erythrocyte plasmalogen

•

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

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:decreased apoa-i and apoa-ii

•

en:decreased activity of mitochondrial respiratory chain complex i

•

en:decreased activity of dihydrofolate reductase

•

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

•

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

•

en:cellular arrest at g2 of the cell cycle

•

en:bleeding time normal

•

en:anti-ssb positive

•

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

•

en:abnormal serum protein electrophoresis (elevated alpha-2 band)

•

en:abnormal columnization of chondrocytes

•

en:abnormal cartilage collagen on em

•

en:variable hypoglycemia

•

en:urocanase deficiency

•

en:urinary prostaglandin e

•

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

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

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

•

en:undetectable urinary hypoxanthine

•

en:tyrosinemia (transient, resolves in infancy)

•

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

•

en:transient eosinophilia in first decade

•

en:thymic hormone decreased

•

en:smooth muscle antibodies positive

•

en:serum triglycerides increased

•

en:serum prolactin decreased

•

en:serum iron low (finding)

•

en:serum cortisol elevated

•

en:serum ammonia increased

•

en:secondary decrease of plasma free carnitine

•

en:presence of serum anti-lu3 antibodies

•

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

•

en:phosphaturia (in some)

•

en:pcs involves most of all chromosomes of a metaphase

•

en:organic aciduria, mild (in some patients)

•

en:oligospermia or azoospermia

•

en:occasionally mild elevation of csf protein

•

en:no hyperphenylalaninemia

•

en:normal urinary 17-ketosteroids

•

en:normal serum plasmalogen

•

en:normal serum cobalamin

•

en:normal or mildly reduced serum cobalamin

•

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

•

en:normal number of t and b lymphocytes

•

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

•

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

•

en:myoglobinuria

•

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

•

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

•

en:mild hypertriglyceridemia

•

en:mild elevation of transaminases

•

en:mildly elevated creatine phosphokinase (cpk) (120270.0002)

•

en:methionine adenosyltransferase deficiency

•

en:low serum magnesium

•

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

•

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

•

en:liver enzymes abnormal

•

en:leukotriene c4 synthetase deficiency

•

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

•

en:lactate pyruvate ratio normal

•

•

en:keratan sulfaturia in some patients

•

en:isovalerylglycinuria

•

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

•

en:indirect bilirubin increased

•

en:increased urine porphyrins at times

•

en:increased urinary vanillylmandelic acid (vma)

•

en:increased urinary potassium

•

en:increased urinary hypoxanthine

•

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

•

en:increased urinary dopamine

•

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

•

en:increased soluble il2 receptor

•

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

•

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

•

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

•

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

•

en:increased plasma phytanic acid

•

en:increased plasma and urinary pipecolic acid

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:increased interleukin 10

•

en:increased disialo- and asialotransferrin

•

en:hypophosphatemia (less common)

•

en:hypoglycorrhachia (low glucose in csf)

•

en:hypogammaglobulinemia (in some patients)

•

en:hypogammaglobulinemia

•

en:hypocitraturia

•

en:hypocalcemia, transient

•

en:hypermethioninemia, progressive

•

en:hyperkalemia during attacks

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

en:hypercalciuria

•

en:hydroxyprolinuria

•

en:homocystinuria (in some patients)

•

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

•

•

en:glycogen accumulation in both liver and muscle

•

en:gaucher disease, type 1

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

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

•

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

•

en:fibroblasts show decreased mitochondrial complex v activity

•

en:ferritin decreased

•

en:farber lipogranulomatosis

•

en:exercise-induced myoglobinuria in adults

•

en:excessive urinary 5-oxo-l-proline

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:elevated plasma propionylcarnitine

•

en:elevated plasma luteinizing hormone (lh)

•

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

•

en:elevated 3-hydroxypropionic acid

•

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

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

en:defect in n- and o-glycosylation

•

en:defect in double-stranded dna repair

•

en:decreased switched memory b cells

•

en:decreased serum androgens

•

en:decreased pyruvate carboxylase (pc) activity (less than 5%)

•

en:decreased plasma apolipoprotein c-ii

•

en:decreased levels of serum vitamin b12

•

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

•

en:decreased hepatic gaba transaminase activity

•

en:decreased hdl cholesterol

•

en:decreased glutamine in bodily fluids

•

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

•

en:decreased decr enzyme activity

•

en:decreased circulating cortisol level

•

en:decreased ciliary motility

•

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

•

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

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:chromosomal rearrangement

•

en:chromosomal mosaicism in cultured cells

•

en:cells show increased sensitivity to ionizing radiation

•

en:broad tissue deposition of amylopectin-like material

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

en:antineutrophil cytoplasmic antibody

•

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

•

en:alpha fetoprotein increased

•

en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria

•

en:aldosterone concentration below normal

•

•

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

•

en:absent alkyl-dhap synthase activity

•

en:abnormal liver function test

•

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

•

en:abnormal fecal fat

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:mitochondrial complex iii deficiency, nuclear type 3

•

en:tryptophanuria

•

en:spongy degeneration of brain on histology

•

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

•

en:shortened telomeres (in 1 of 2 patients)

•

en:severe amyloid angiopathy

•

en:serum copper decreased

•

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

•

en:raised c-reactive protein

•

en:proper antibody response to protein vaccinations

•

en:positive urinary bratton-marshall test

•

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

•

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

•

en:patient cells show increased chromosome breakage

•

en:partial deficiency of factor xiii (less common)

•

en:normal serum folate levels

•

en:normal plasma phytanic acid

•

en:normal lysyl hydroxylase activity

•

en:normal activity of von willebrand factor-cleaving protease

•

en:molybdenum cofactor deficiency

•

en:microdeletion 22q11.2

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:methylmalonic aciduria

•

en:metachromasia of white blood cells and fibroblasts

•

en:low serum levels of ketone bodies

•

en:low plasma methionine

•

en:low density lipoprotein increased

•

en:little to absent aspartylglucosaminuria activity

•

en:large spermatozoa

•

en:karyomegaly may be found in other visceral organs

•

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

•

en:increased urinary succinic acid

•

en:increased urinary free sialic acid (n-acetylneuraminic acid, 20-200x normal)

•

en:increased serum thymidine

•

en:increased serum methionine (reported in 2 cases)

•

en:increased prevalence among the native american lumbee indians

•

en:increased plasma phospholipids

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:increased creatine kinase (ck)

•

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

•

en:immunoreactive pc protein

•

en:immunoglobulin antibodies present

•

en:iiga and igg antigliadin antibodies (aga)

•

en:igg deficiency

•

en:hyponatremic dehydration, rarely

•

en:hypoglycemia

•

en:hypertriglyceridemia (in some patients)

•

en:hyperornithinemia

•

en:hypercholesterolemia (reported in 2 patients)

•

en:hypercholesterolemia (disorder)

•

en:hyperarginemia

•

en:homocysteinemia (in some patients)

•

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

•

en:high nonceruloplasmin-bound serum copper

•

en:high m-component

•

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

•

en:globulin gamma serum plasma increased result

•

en:fasting hypoglycemia (early in disease course)

•

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

•

en:elevated plasma estrogen

•

en:elevated liver transaminases

•

en:elevated creatine kinase (in some patients)

•

en:elevated biopterin in csf

•

en:elevated alkaline phosphatase

•

en:elevated 3-methylcitric acid

•

en:deficiency or absence of p91-phox protein

•

en:defect in oxidative phosphorylation

•

en:defect in dna repair

•

en:decreased tetrasialotransferrin levels

•

en:decreased telomere length in lymphocytes

•

en:decreased serum rt3

•

en:decreased red cell pyruvate kinase activity

•

en:decreased phgdh activity (fibroblasts)

•

en:decreased or absent dihydropteridine reductase activity

•

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

•

en:decreased factor xi

•

en:decreased cortisol-binding globulin

•

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

•

en:decreased b cells

•

en:decreased activity of triosephosphate isomerase

•

en:decreased activity of thiopurine s-methyltransferase

•

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

•

en:decreased acid beta galactosidase protein and activity

•

en:cytosolic phosphoenolpyruvate carboxykinase deficiency

•

en:cutaneous anergy

•

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

•

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

•

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

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

en:axonemes show normal structure

•

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

•

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

•

en:aldolase a deficiency

•

en:alanine aminotransferase increased

•

en:absence of hepatic udp-glucuronyl-transferase

•

en:abnormal urinary organic acids

•

en:abnormal transaminases (1 patient)

•

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

•

en:abnormal secretin test

•

en:abnormal liver enzymes (1 patient)

•

en:abnormal liver enzymes, intermittent

•

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

•

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

•

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

•

en:transferase deficiency galactosemia

•

en:skewed x-inactivation in females

•

en:serum bicarbonate increased

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:reduced ige levels

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

en:protein urine absent

•

en:prolonged activated partial prothrombin time (appt)

•

en:prolidase deficiency

•

en:pentagastrin stimulation test

•

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

•

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

•

en:parathyroid hormone level increased

•

en:no metabolic abnormalities

•

en:normal to mildly increased serum creatine kinase

•

en:normal maltase, isomaltase, and sucrase activity

•

en:normal 46,xy karyotype

•

en:neutral hyperaminoaciduria

•

en:negative nitroblue tetrazolium (nbt) reduction test

•

en:mutant mtdna threonine transfer rna gene (mttt, 590090) of questionable etiology

•

en:mitochondrial deletions

•

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

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:marked hypoalphalipoproteinemia (in some patients)

•

en:lysosomal-like storage vacuoles in various tissues

•

en:low or absent growth hormone (gh)

•

en:ketonuria, acute

•

en:intermittent dicarbonic aciduria

•

en:increase urinary excretion of lysine, arginine, and ornithine

•

en:increased urinary lactate

•

en:increased urinary glycosphingolipids, particularly globotriaosylceramide

•

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

•

en:increased urinary carnitine

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:increased serum prostaglandin e2

•

en:increased serum lactate (in some patients)

•

en:increased serum glutamine

•

en:increased serum fgf23

•

en:increased serum creatine kinase during episodes

•

en:increased serum alanine (1 patient)

•

en:increased nasal-potential difference (some)

•

en:increased long-chain acylcarnitine

•

en:increased lactate: pyruvate ratio (group b)

•

en:increased free erythrocyte protoporphyrin

•

en:increased fractional excretion of uric acid

•

en:increased erythropoietin

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:increased csf interferon alpha

•

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

•

en:increased c10:2-carnitine

•

en:increased bone-specific alkaline phosphatase

•

en:increased bile acid intermediates (dhca and thca)

•

en:increased 18-oxocortisol

•

en:impaired n-glycosylation

•

en:hypoglycemia, fasting

•

en:hyperprolinemia (5-10 times normal)

•

en:hyperglycemia

•

en:hyperchloremia (mean 111 mm)

•

en:hypercalciuria (in some patients)

•

en:hyperbilirubinemia in those with liver failure

•

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

•

en:homocysteinemia

•

en:holocarboxylase synthetase deficiency

•

en:high plasma triglyceride levels

•

en:high ft3/ft4 ratio

•

en:hereditary factor x deficiency

•

en:hawkinsinuria

•

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

•

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

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:elevated urinary 3-methylglutaconate

•

en:elevated testosterone

•

en:elevated sweat chloride

•

en:elevated serum bile acids

•

en:elevated sepiapterin in csf

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated plasma follicle stimulating hormone (fsh)

•

en:elevated plasma and urine succinylacetone

•

en:elevated inflammatory markers

•

en:elevated circulating parathyroid hormone (pth) level

•

en:elevated cerebrospinal fluid (csf) protein

•

en:elevated 8-dehydrocholesterol

•

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

•

en:dilated rough endoplasmic reticulum (rer)

•

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

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:decreased serum iga

•

en:decreased serum factor h (atypical hus)

•

en:decreased serum complement factor h

•

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

•

en:decreased plasminogen activity

•

en:decreased or absent apolipoprotein a-i

•

en:decreased neopterin and biopterin in urine

•

en:decreased natural killer cells

•

en:decreased nasal nitric oxide

•

en:decreased mitochondrial nadp(h)

•

en:decreased mitochondrial complex iii activity seen in muscle

•

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

•

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

•

en:decreased fibroblast iduronate sulfatase

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

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

•

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

•

en:decreased cerebrospinal fluid folic acid

•

en:decreased c3 activity

•

en:decreased antithrombin iii (rare)

•

en:decreased activity of mitochondrial respiratory complexes

•

en:decreased activity of galactocerebrosidase

•

en:cystathioninuria (lab finding)

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:creatine phosphokinase serum increased

•

en:coombs positive hemolytic anemia

•

en:chylomicronemia, refractory fasting

•

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

•

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

•

en:antithrombin iii deficiency

•

en:aminoaciduria, mild (in some patients)

•

en:alpha-fetoprotein normal

•

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

•

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

•

en:accumulation of guanidinoacetate in brain

•

en:absent or abnormal thyroglobulin

•

en:absence of outer dynein arms

•

en:abnormal urinary oligosaccharides

•

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

•

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

•

en:xanthine nephrolithiasis

•

en:variably increased serum creatine kinase

•

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

•

en:undetectable plasma dbh activity

•

en:thrombocytosis (in some patients)

•

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

•

en:telomere shortening

•

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

•

en:severely decreased antigen levels of vwf and factor viii

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:protein total decreased

•

en:plasma ammonia not elevated

•

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

•

en:no ketonuria

•

en:no evidence of perinatal infection

•

en:normal serum phytanic and pristanic acid

•

en:normal or increased serum phosphate

•

en:normal male karyotype (46,xy)

•

en:normal calcium (female)

•

en:nephrotic syndrome

•

en:n-glycosylation defect

•

en:mild hyperammonemia

•

en:mild elevation of cholesterol

•

en:methioninuria

•

en:lysine-ketoglutarate reductase deficiency

•

en:low or normal serum erythropoietin

•

en:low acth level

•

en:low 25-oh-vitamin d level

•

en:lactate high

•

en:ketonuria (1 patient)

•

en:isochromosome often missing in lymphocyte

•

en:iron overload (in some patients)

•

en:inner and outer dynein arm defects, variable

•

en:increased urinary thymine

•

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

•

en:increased urinary glycerol

•

en:increased urinary excretion of cystine

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

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

•

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

•

en:increased serum ige

•

en:increased serum creatine kinase (patient a)

•

en:increased serum bile acids

•

en:increased serum and urinary 2-oxoglutarate

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:increased csf protein

•

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

•

en:increased cellular sensitivity to uv light

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:inappropriately low urine osmolality

•

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

•

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

•

en:hyperlipoproteinemia type i

•

en:hyperlactemia

•

en:hyperglycinemia (1 patient)

•

en:hyperchloremia (mean 114 mm)

•

en:hyperalphalipoproteinemia

•

en:high plasma asparagine

•

en:hematuria, gross and microscopic

•

en:hair bulb tyrosinase present

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

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

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:fibrinogen decreased

•

en:excessive iodide trapping

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:elevated plasma citrulline (citrullinemia)

•

en:elevated gamma-glutamyltransferase

•

en:elevated fasting triglycerides

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:elevated ast and ldh, especially infantile-onset

•

en:elevated alkaline phosphatase of bone origin

•

•

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

•

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

•

en:defective bile acid metabolism

•

en:decreased transferrin increased serum iron

•

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

•

en:decreased serum haptoglobin (in some patients)

•

en:decreased serum and muscle coenzyme q

•

en:decreased plasma lpl levels (in some patients)

•

en:decreased plasma gonadotrophin

•

en:decreased plasma arginine

•

en:decreased plasma apolipoprotein b (apob, 107730)

•

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

•

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

•

en:decreased intracellular fmr protein

•

en:decreased fibrillin-1 immunostaining in the dermis

•

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

•

en:decreased cholesterol (less common)

•

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

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

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

•

en:cytogenetic breakpoints range from 10q23.3-q26.2

•

en:csf pleocytosis, particularly of lymphocytes

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:chondroitin 6-sulfate excretion in urine

•

en:ceruloplasmin decreased

•

en:cerebrospinal fluid lymphocytosis

•

en:cd4+/cd8+ ratio often reversed

•

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

•

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:aminoaciduria (less common)

•

en:alkaline phosphatase normal

•

en:aldosterone level increased above normal

•

en:absent anti-insulin receptor antibodies

•

en:absent 7-dehydrocholesterol

•

en:abnormal liver enzymes (rare)

•

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

•

en:vitamin b12 deficiency (in some patients)

•

en:tyrosine loss

•

en:tenascin x deficiency (serum and fibroblasts)

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:serum lactate may be increased during encephalopathic exacerbations

•

en:serum corticosterone increased

•

en:serum complement decreased

•

en:serum calcitonin, increased

•

en:reduced erythrocyte gs activity

•

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

•

en:prolonged bleeding time

•

en:platelet function test normal

•

en:plasma aldosterone normal

•

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

•

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

•

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

•

en:orotic aciduria

•

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

•

en:no elevation of free fatty acids

•

en:normocalcemia

•

en:normal to slightly high alkaline phosphatase

•

en:normal to elevated total plasma carnitine

•

en:normal total urinary coproporphyrin

•

en:normal prolyl 4-hydroxylase activity

•

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

•

en:normal plasma renin

•

en:normal or increased serum phytanic acid

•

en:normal leukocyte and platelet counts

•

en:normal iga levels

•

en:normal arterial oxygen saturation

•

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

•

en:myopathy with type i fiber atrophy on muscle biopsy

•

en:myoglobinuria (reported in 1 patient)

•

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

•

en:mildly elevated transaminases

•

en:methylsuccinic aciduria

•

en:methylmalonic aciduria, mild

•

en:methylenetetrahydrofolate reductase deficiency

•

en:metabolic acidosis

•

en:median mean platelet volume (mpv) 20fl

•

en:markedly reduced iga levels

•

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

•

en:low urinary cyclic amp response to pth administration

•

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

•

en:low copper and ceruloplasmin

•

en:lower total cholesterol

•

en:lactic acidemia (2p21del)

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased urinary catecholamines

•

en:increased urinary acetoacetic acid

•

en:increased urinary 3-oh-butyric acid

•

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

•

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

•

en:increased serum uric acid

•

en:increased serum total cholesterol

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:increased serum thrombopoietin may occur

•

en:increased serum c26-bile-acid intermediates

•

en:increased serum bilirubin due to hemolysis

•

en:increased serum and urinary lactate

•

en:increased serum and csf lactate

•

en:increased serum alpha-mannosidase

•

en:increased pyruvate in serum and csf

•

en:increased il18

•

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

•

en:increased biopterin in urine and csf

•

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

•

en:hypoalbuminemia (in 83%)

•

en:hyperphenylalaninemia

•

en:hyperlipidemia

•

en:hypercholesterolemia

•

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

•

en:high ornithine

•

en:hepatic ornithine transcarbamylase deficiency

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

•

•

en:glutaric aciduria

•

en:glomerular filtration rate decreased

•

en:foam cells in bone marrow and renal glomeruli

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:enzyme replacement therapy has not been effective

•

en:elevated pth (parathyroid hormone)

•

en:elevated fasting glucose

•

en:elevated erythrocyte adenosine deaminase activity

•

en:elevated calcitonin

•

en:elevated 7-dehydrocholesterol

•

en:electrolyte disturbances from intractable diarrhea

•

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

•

en:defect in chylomicron secretion

•

en:defective glcnac-pi synthesis

•

en:defective (ca2+) mobilization in t cells

•

en:decreased ubiquinone-10

•

en:decreased serum thiamine pyrophosphate

•

en:decreased plasma glycine

•

en:decreased plasmalogens

•

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

•

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

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

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

•

en:decreased long-chain fatty acid oxidation

•

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

•

en:decreased levels of certain coagulation factors

•

en:decreased hexokinase activity in red blood cells

•

en:decreased grhpr activity

•

en:decreased fibroblast arylsulfatase a

•

en:decreased fbp1 enzyme activity

•

en:decreased csf arginine

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

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

•

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

•

en:decreased activities of multiple sulfatases

•

en:creatine kinase normal between episodes

•

en:creatine decreased

•

en:chronic hypercapnia

•

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

•

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

•

en:cd4/cd8 ratio decreased

•

en:branched chain ketoaciduria (alpha-keto isocaproate, alpha-keto-beta methylisovalerate, alpha-keto isovalerate)

•

en:blood glucose normal

•

en:at least 2 complementation groups

•

en:antiribonuclear protein positive

•

en:alkaline phosphatase serum increased

•

en:absence of chylomicrons in lymph and plasma

•

en:abnormal serum liver enzyme levels

•

en:abnormal liver function tests during pregnancy, resolves postpartum

•

en:abnormal liver function tests (less common)

•

en:variable hyperlipidemia

•

en:urine uric acid decreased

•

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

•

en:transcobalamin ii deficiency

•

en:thyroid hormone organification defect

•

en:thyroid dyshormonogenesis 5

•

en:serum phosphate concentration below normal

•

en:serum gastrin increased

•

en:serum folate low

•

en:serum creatine kinase 20-70 times normal

•

en:serum cortisol decreased

•

en:serum calcium elevated

•

en:schirmer test shows alacrima

•

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

•

en:reduced unsaturated serum cobalamin binding capacity

•

en:reduced erythrocyte glucose/hexose transport

•

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

•

en:pyruvate-induced insulin secretion

•

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

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:postprandial hyperglycemia (early in disease course)

•

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

•

en:patient cells show abnormal mitochondrial morphology

•

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

•

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

•

en:normal transferrin isoelectric profile

•

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

•

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

•

en:normal phytanic acid

•

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

•

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

•

en:normal lactate (hcs)

•

en:normal exocrine pancreatic function

•

en:normal axonal flare response after intradermal histamine injection

•

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

•

en:multiple tissue biopsies show lysosomal storage disease

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:mild elevation of triglycerides

•

en:median mean platelet volume 13fl

•

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

•

en:markedly reduced igg levels

•

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

•

en:low serum alpha-fetoprotein (recessive)

•

en:low serum acth

•

en:low or absent luteinizing hormone (lh)

•

en:low-molecular-weight proteinuria

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846563 • caches: c1=8 c2=1003 c3=1

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