Le Diko - en:decreased hepatic udp-glucuronyl-transferase activity

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Le Diko - en:decreased hepatic udp-glucuronyl-transferase activity

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en:decreased hepatic udp-glucuronyl-transferase activity

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:t cells may be increased or decreased

•

en:increased serum uric acid

•

en:phosphaturia

•

en:2-oxoadipic aciduria

•

en:cd4/cd8 ratio decreased

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:decreased testosterone level

•

en:direct hyperbilirubinemia

•

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

•

en:elevated serum iron

•

en:hypergammaglobulinemia

•

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

•

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

•

en:increased plasma phytanic acid

•

en:increased renal tubular phosphate reabsorption

•

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

•

en:liver phosphorylase kinase (phk) deficiency

•

en:increased d-glyceric acid in serum, urine, and csf

•

en:multiple tissue biopsies show lysosomal storage disease

•

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

•

en:low serum cortisol

•

en:increased serum butyryl carnitine

•

en:increased prv-1 (162860) mrna

•

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

•

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

•

en:electrocardiogram abnormal

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

en:thyroid hormones increased

•

en:serum ferritin normal

•

en:elevated urinary delta-aminolevulinic acid

•

en:hypertriglyceridemia, transient

•

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

•

en:increased urinary n-acetylated amino acids

•

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

•

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

•

en:elevated 3-hydroxypropionic acid

•

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

•

en:chromosomal rearrangement

•

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

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:phosphorylase kinase normal in muscle

•

en:elevated serum insulin-to-c-peptide ratio

•

en:t-lymphocytopenia

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:normal or increased serum phosphate

•

en:mild elevation of triglycerides

•

en:low serum levels of ketone bodies

•

en:high sister chromatid exchange (sce) rate

•

en:fasting hypoglycemia (early in disease course)

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

en:decreased secretion of igf1 in response to gh administration

•

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

•

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

•

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

•

en:increased creatinine

•

en:abnormal liver enzymes during illness

•

en:creatine phosphokinase serum increased

•

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

•

en:hydroxyprolinuria

•

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

•

en:normal serum liver enzymes

•

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

•

en:hypercholesterolemia (disorder)

•

en:increased serum pyruvate

•

en:no c8 antigen detected

•

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

•

en:reactive hypoglycemia

•

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

•

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

•

en:cerebrospinal fluid oligoclonal bands

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

•

en:normal serum plasmalogen

•

en:normal to increased plasma threonine

•

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

•

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

•

en:elevated serum iron and iron binding capacity

•

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

•

en:hyperlactemia

•

en:coagulopathy (inr = 2.2 - 3.5)

•

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

•

en:low plasma methionine

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

en:decreased dermal hydroxylysine content

•

en:increased urinary catecholamines

•

en:abnormal liver enzymes (in some patients)

•

en:blood urea nitrogen increased

•

en:decreased cpt1 activity

•

en:decreased scad activity

•

en:elevated circulating parathyroid hormone (pth) level

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:elevated serum parathyroid hormone (pth) level

•

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

•

en:hyponatremia in infancy

•

en:low plasma triglyceride level

•

en:proper antibody response to protein vaccinations

•

en:complex organic aciduria

•

en:cytogenetic deletion of chromosome 19q13

•

en:decreased serum c3 (atypical hus)

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:hyponatremic dehydration, rarely

•

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

•

en:low cholesterol esterification rates

•

en:normal csf neurotransmitters

•

en:premature chromosome condensation

•

en:decreased or normal serum factor i

•

en:methylenetetrahydrofolate reductase deficiency

•

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

•

en:hypoketotic hypoglycemia

•

en:hemophilia b

•

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

•

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

•

en:decreased copper, iron, zinc

•

en:decreased activities of multiple sulfatases

•

en:chylomicronemia, refractory fasting

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:pyruvic acidemia

•

en:normal plasma and tissue carnitine

•

en:decreased mitochondrial complex iii activity in muscle

•

en:widespread interstitial fibrosis (visceral organs)

•

en:normal free urinary cortisol

•

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

•

en:spongy degeneration of brain on histology

•

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

•

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

•

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

•

en:normal cerebrospinal fluid

•

en:myoglobinuria with extreme exertion

•

en:increased urinary carnitine esters

•

en:increased sodium-potassium pump activity

•

en:hyperprolinemia (10-15 times normal)

•

en:defective mitochondrial respiratory enzyme activity

•

en:normal isoelectric focusing of serum transferrin

•

en:absence of outer dynein arms

•

en:adenylosuccinase deficiency (finding)

•

en:decreased complement factor d

•

en:decreased fibroblast iduronate sulfatase

•

en:decreased serum thyroxine (t4)

•

en:fibroblasts attach poorly

•

en:increased urinary magnesium

•

en:elevated total bilirubin

•

en:sce normal in heterozygotes

•

en:iron binding capacity total increased

•

en:very low igm

•

en:ketoacidosis

•

en:prothrombin time increased

•

en:increased serum lactate during metabolic crisis

•

en:hypomagnesemia

•

en:hyperalphalipoproteinemia

•

en:elevated plasma acth

•

en:abnormal columnization of chondrocytes

•

en:biotinidase deficiency

•

en:cystathioninemia

•

en:decreased plasma total and free carnitine

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:hyperchloremia (mean 111 mm)

•

en:increased 18-oxocortisol

•

en:phospholipid antibody positive

•

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

•

en:decreased ldl cholesterol

•

en:elevated plasma methionine (methioninemia)

•

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

•

en:increased 11-deoxycortisol

•

en:increased gamma-interferon

•

en:increased urinary isobutyryl glycine

•

en:intermittent ethylmalonic aciduria

•

en:low-to-normal platelet count

•

en:decreased or normal plasma insulin

•

en:increased serum lysine (group b)

•

en:increased plasma long-chain acylcarnitines

•

en:increased serum bilirubin due to hemolysis

•

en:increased serum creatine kinase during episodes

•

en:increased serum lactate (patient a)

•

en:increased serum levels of free plasma thyroid hormones

•

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

•

en:increased serum prostaglandin e2

•

en:increased serum triiodothyronine (t3)

•

en:increased soluble il2 receptor

•

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

•

en:increased disialo- and asialotransferrin

•

en:increased urinary excretion of coproporphyrin i

•

en:increased urinary oligosaccharides

•

en:increased free erythrocyte protoporphyrin

•

en:increased alpha-fetoprotein (1 patient)

•

en:increased csf taurine

•

en:increased csf protein during acute illness

•

en:increased csf lactate during acute episodes

•

en:increased creatine kinase, mild to moderate

•

en:increased urinary potassium

•

en:inappropriately normal or increased plasma hepcidin

•

en:impaired response to gm-csf

•

en:igm deficiency

•

en:hypogammaglobulinemia

•

en:hypocitraturia

•

en:hyperphenylalaninemia

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

en:hyperhomocystinemia

•

en:homocystinemia

•

en:holocarboxylase synthetase deficiency

•

en:increased urinary phospholipids

•

en:iron deficiency

•

en:increased urinary sulfite

•

en:normal red cell counts

•

en:normal blood lactate

•

en:normal cd8+/cd4+ ratio

•

en:normal extrarenal responses to ddavp administration

•

en:normal maltase, isomaltase, and sucrase activity

•

en:normal parathyroid hormone (female)

•

en:normal plasma renin

•

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

•

en:monoclonal gammopathy

•

en:normal serum phosphorus

•

en:normal sweat chloride (3 of 3 patients)

•

en:normal to elevated total plasma carnitine

•

en:no increase of muscle lactate with ischemic exercise testing

•

en:no metabolic abnormalities

•

en:orotic aciduria

•

en:normal arterial oxygen saturation

•

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

•

en:increased urinary thiosulfate

•

en:lower total cholesterol

•

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

•

en:iodine depletion

•

en:hepatic argininosuccinase deficiency

•

en:isovalericaciduria

•

en:karyotype analysis normal finding

•

en:long-chain dicarboxylic aciduria

•

en:low or absent igm levels

•

en:mild eosinophilia may occur

•

en:low or normal serum igm

•

en:low urinary cyclic amp response to pth administration

•

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

•

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

•

en:methemoglobinemia

•

en:methylmalonic acidemia

•

en:high sweat electrolyte

•

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

•

en:glycogen accumulation in both liver and muscle

•

en:contiguous gene deletion syndrome

•

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

•

en:decreased or absent apolipoprotein a-i

•

en:decreased nasal nitric oxide

•

en:decreased levels of the e2 subunit protein

•

en:decreased iga, igg, igm

•

en:decreased fibroblast arylsulfatase a

•

en:decreased csf arginine

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased activity of phosphoglycerate kinase 1

•

en:decreased acetyl-coa carboxylase activity

•

en:d-2-hydroxyglutaric aciduria

•

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

•

en:creatine kinase normal between episodes

•

en:coombs positive hemolytic anemia

•

en:cilia show inner and outer dynein arm defects

•

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

•

en:aminoaciduria

•

en:plasma catecholamines decreased

•

en:abnormal dystrophin on muscle biopsy

•

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

•

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

•

en:absent tyrosinase activity

•

en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria

•

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

•

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

•

en:anti-ds dna antibody

•

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

•

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

•

en:ballooned neurons

•

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

•

en:chromosome 11q23.3 deletion

•

en:decreased plasma triglycerides

•

en:decreased serum acth

•

•

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

•

en:glucosuria, mild, intermittent

•

en:gaucher disease, type 1

•

en:fibroblasts show decreased mitochondrial complex v activity

•

en:fibroblasts have decreased levels of ceramide, sphingomyelin, lactosylceramide, ceramide trihexoside, and globoside

•

en:fasting ketosis

•

en:elevated urinary mevalonic acid

•

en:elevated testosterone

•

en:elevated pth (parathyroid hormone)

•

en:elevated propionate

•

en:elevated erythrocyte adenosine deaminase

•

en:elevated calcitonin

•

en:elevated ast (aspartate aminotransferase) and cpk (creatine phosphokinase)

•

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

•

en:elevated alpha-ketoglutarate (in most patients)

•

en:elevated 8-dehydrocholesterol

•

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

•

en:decreased urinary hva, 5-hiaa, and vanillyl mandelic acid (vma)

•

en:decreased serum complement factor h

•

en:decreased serum free thyroxine

•

en:decreased serum haptoglobin

•

en:decreased serum luteinizing hormone (lh)

•

en:decreased sulfite oxidase activity

•

en:decreased triiodothyronine level

•

en:decreased whole blood serotonin

•

en:distal xp22.3 segmental monosomy

•

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

•

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

•

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

•

en:dhea sulfotransferase below limit of detection

•

en:dicarboxylic aciduria

•

en:dilated rough endoplasmic reticulum (rer)

•

en:plasma aldosterone normal

•

en:severely impaired ciliary motility

•

en:platelet count normal

•

en:increased serum iduronate sulfatase

•

en:low ldl cholesterol

•

en:liver function tests normal

•

en:intracellular granular material on ultrastructural analysis

•

en:interstitial or terminal deletion of 18q

•

en:incresased urinary pyruvate

•

en:increased urinary organic acids (in some patients)

•

en:increased urinary dicarboxylic acid, transient

•

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

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased susceptibility to ebv infection

•

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

•

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

•

en:increased serum lipoproteins

•

en:increased serum gm-csf

•

en:metachromasia of white blood cells and fibroblasts

•

en:increased cellular sensitivity to uv light

•

en:hypertriglyceridemia (in some patients)

•

en:hypertryptophanemia

•

en:hypocalcemia

•

•

en:impaired platelet aggregation

•

en:increased bone serum acid phosphatase

•

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

•

en:increased serum creatine kinase (patient a)

•

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

•

en:increased interferon-alpha signal

•

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

•

en:increased osmotic fragility

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:increased plasma progastrin

•

en:low serum alpha-fetoprotein (recessive)

•

en:microdeletion 22q11.2

•

en:hyperglycolic aciduria

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:transmission electron microscopy (tem) of patient respiratory cilia shows normal 9+2 axonemal composition

•

en:presence of serum anti-lu3 antibodies

•

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

•

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

•

en:some fragmented or disrupted golgi

•

en:severely decreased antigen levels of vwf and factor viii

•

en:serum carnitine deficiency

•

en:serum calcium elevated

•

en:serum c-reactive protein may be increased

•

en:serum aldosterone elevated

•

en:rheumatoid factor negative

•

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

•

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

•

en:patient cells show abnormal mitochondrial morphology

•

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

•

en:mildly elevated acth

•

en:normal lactate (hcs)

•

en:mild hyperammonemia

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:multiple autoantibodies

•

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

•

en:normal-elevated plasma testosterone (male range)

•

en:normal concentration of parathyroid hormone

•

en:normal levels of complement factor h, but impaired function

•

en:normal urinary cyclic amp response to pth administration

•

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

•

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

•

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

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:normal to mildly increased mucopolysacchariduria

•

en:hyperthreoninemia

•

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

•

en:high nonceruloplasmin-bound serum copper

•

en:'rectilinear profiles' ultrastructurally in cells

•

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

•

en:decreased csf serine

•

en:decreased axonal flare response after intradermal histamine injection

•

en:decreased agt activity

•

en:decreased activity of dihydrofolate reductase

•

en:csf pleocytosis, particularly of lymphocytes

•

en:cerebrospinal fluid lymphocytosis

•

en:argininosuccinic aciduria

•

en:antithrombin iii decreased

•

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

•

en:aldosterone level increased above normal

•

en:absent or severely reduced levels of serum immunoglobulins

•

en:abnormal transaminases (1 patient)

•

en:4-hydroxyphenylactic aciduria

•

en:laboratory abnormalities

•

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

•

en:serum prolactin decreased

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:reduced erythrocyte gs activity

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:reduced platelet glycoprotein ib complex

•

en:resistance to 1,25-dihydroxyvitamin d3

•

en:serum acid phosphatase normal

•

en:serum testosterone decreased

•

en:variegated translocation mosaicism in cultured fibroblasts

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:some tissues may have normal levels of 3-hydroxyacyl-coa dehydrogenase activity

•

en:tay-sachs disease

•

en:transaminitis

•

en:type i, classic, decreased antithrombin iii levels

•

en:urinary excretion of mucopolysaccharides

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

en:hb h erythrocyte inclusions

•

en:factor vii deficiency

•

en:elevated serum uric acid concentrations

•

en:elevated urinary 2-ethylhydracrylate

•

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

•

en:elevated urinary pge(2) levels

•

en:excessive iodide trapping

•

en:exercise-induced myoglobinuria

•

en:fibroblasts are small and rounded with prominent nucleoli

•

en:elevated sed rate

•

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

•

en:foam cells in visceral organs and cns

•

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:galactosuria

•

en:glutathione deficiency

•

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

•

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

•

en:elevated fibroblast free sialic acid

•

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

•

en:decreased methylcobalamin (mecbl)

•

en:decreased or absent ciliary motility

•

en:decreased plasma gonadotrophin

•

en:decreased serum cobalamin

•

en:decreased serum haptoglobin (in some patients)

•

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

•

en:decreased or absent gch1 activity

•

en:elevated androstenedione and testosterone

•

en:decrease plasma serine (fasting)

•

•

en:disseminated intravascular coagulation

•

en:elevated alkaline phosphatase

•

en:decreased transferrin increased serum iron

•

en:intermittent dicarbonic aciduria

•

en:increased urinary 2-methylacetoacetic acid

•

en:increased urinary citric acid cycle intermediates

•

en:increased urinary dihydropyrimidines

•

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

•

en:increased urine porphyrins at times

•

en:intermediate level of cellular sensitivity to uv light

•

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

•

en:intracellular accumulation of unesterified cholesterol

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

•

en:low absolute lymphocyte count

•

en:low copper and ceruloplasmin

•

en:low serum levels of branched-chain amino acids

•

en:low or absent prolactin (pl)

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:increased phytanic acid in body tissues and fluids

•

en:increased platelet aggregation with ristocetin

•

en:increased triglycerides (less common)

•

en:increased serum beta-carotene

•

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

•

en:increased plasma free cholesterol

•

en:increased plasma levels of bile acid intermediates

•

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

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:increased serum and urinary lactate

•

en:increased serum direct bilirubin

•

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

•

en:increased serum glutamine

•

en:increased serum lactate (in some patients)

•

en:increased serum lactate hydrogenase

•

en:increased serum parathyroid hormone (pth)

•

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

•

en:increased serum thyroid-stimulating hormone (tsh)

•

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

•

en:variable defects of inner dynein arms

•

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

•

en:sweat test normal

•

en:serum c-peptide and glucagon levels measurable

•

en:serum chloride level decreased (finding)

•

en:serum creatinine raised

•

en:serum osmolality decreased

•

en:shortened metaphase

•

en:smooth muscle antibodies positive

•

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

•

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

•

en:triglyceride decreased

•

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

•

•

en:vitamin b12 deficiency (in some patients)

•

en:vitamin d deficiency

•

en:abnormal cartilage collagen on em

•

en:increased hepatic parenchymal cell stainable iron

•

en:serum albumin low result

•

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

•

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

•

en:normal or mildly reduced serum cobalamin

•

en:multi-tailed spermatozoa

•

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

•

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

•

en:normal lysyl oxidase activity

•

en:normal or decreased serum potassium

•

en:normal or mildly decreased arylsulfatase a activity

•

en:normal transferrin saturation

•

en:plasmalogen deficiency

•

en:no increased sensitivity to oxidative species

•

•

en:panhypogammaglobulinemia

•

en:partial deficiency of factor xiii(c)

•

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

•

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

•

en:phosphaturia (in some)

•

en:increased nasal-potential difference (some)

•

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

•

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

•

en:decreased serum factor h (atypical hus)

•

en:decreased antithrombin iii (rare)

•

en:decreased clot retraction

•

en:decreased csf methyltetrahydrofolate (mthf)

•

en:decreased hepatic gaba transaminase activity

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:decreased or normal serum c3

•

en:defective (ca2+) mobilization in t cells

•

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

•

en:defective glcnac-pi synthesis

•

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

•

en:defect in chylomicron secretion

•

en:defect in double-stranded dna repair

•

en:dermatan and heparan sulfate excretion in urine

•

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

•

en:dyskinetic ciliary motility

•

en:decreased activity of tyrosine hydroxylase

•

en:decreased activity of the pdh phosphatase

•

en:elevated blood spot hydroxybutyryl carnitine

•

en:absent axonal flare response after intradermal histamine injection

•

en:abnormal karyotype in 3 patients involving distal 6p

•

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

•

en:3-methylglutaric aciduria (3-mga)

•

en:5-hiaa csf may be normal or decreased

•

en:aberrant gamma-interferon-mediated inflammation

•

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

•

en:absent or abnormal thyroglobulin

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

en:alpha-fetoprotein normal

•

en:aminoaciduria (in some patients)

•

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

•

en:blood glucose normal

•

en:creatine decreased

•

en:cytogenetic deletion of chromosome 17p13.3

•

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

•

en:elevated crp

•

en:increased di- and asialo-transferrin

•

en:i-cell disease

•

en:hyperlipidemia

•

en:hypermagnesemia

•

en:hyperoxalaemia

•

en:hypoglycosylation of plasma glycoproteins

•

en:hypokalemia occurs during paralytic attacks

•

en:hypoproteinemia due to hypercatabolism

•

en:igg, elevated

•

en:hyperglycinuria (disorder)

•

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

•

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

•

en:inappropriately increased urine osmolality

•

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

•

en:increased bile acid intermediates (dhca and thca)

•

en:increased ck-mb

•

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

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:hypercholesterolemia (10%)

•

en:elevated gamma-glutamyltransferase (ggt)

•

en:galactosemia

•

en:elevated liver function tests

•

en:elevated plasma ammonia

•

en:elevated plasma cholestanol

•

en:elevated serum levels of luteinizing hormone (lh)

•

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

•

en:elevated urinary ornithine, lysine, arginine

•

en:galactosyltransferase i deficiency in fibroblasts

•

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

•

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

•

en:glutaric aciduria

•

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

•

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

•

en:hawkinsinuria

•

en:hepatic ornithine transcarbamylase deficiency

•

en:homocystinuria (in some patients)

•

en:abnormal isoelectric focusing of serum transferrin

•

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

•

en:abnormal liver enzymes (rare)

•

en:indirect hyperbilirubinemia

•

en:increased urinary excretion of camp

•

en:increased urinary excretion of cystine

•

en:increased urinary excretion of l-xylulose

•

en:increased urinary l-glycerate

•

en:increased urinary propionyl glycine

•

en:increased urinary thymine

•

en:intermittent 3-methylglutaconic aciduria

•

en:increased urinary creatine

•

en:iodide organification defect

•

en:lactic acidemia

•

en:leukocytosis

•

en:low csf creatine

•

en:low free carnitine

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low plasma arginine

•

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

•

en:increased serum glycerol

•

en:low to low-normal magnesium

•

en:increased ferritin

•

en:hypocalcemia (64% of adults)

•

en:igg deficiency

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

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

•

en:increased csf homovanillic acid (hva)

•

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

•

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

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:increased igm level

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:increased plasma phospholipids

•

en:increased plasma proinsulin

•

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

•

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

•

en:low plasma tryptophan (inflammatory type b)

•

en:low to very low hdl cholesterol

•

en:hypermagnesiuria

•

en:serum iron normal

•

en:reduced erythrocyte glucose/hexose transport

•

en:reduced serum uric acid

•

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

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:serum creatine kinase may be normal

•

en:serum folate low

•

en:serum mitochondrial autoantibodies

•

en:phytanic acid accumulation

•

en:serum testosterone level normal

•

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

•

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

•

en:tyrosine iodination defect

•

en:undetectable plasma dbh activity

•

en:urine uric acid decreased

•

en:abnormal liver function tests (sgot, sgpt)

•

en:plasma protein c deficiency

•

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

•

en:markedly reduced igg levels

•

en:normal lysyl hydroxylase activity

•

en:methylglutaconic aciduria, mild

•

en:microduplication of chromosome 5p13

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:monomeric igm

•

en:neonatal hyperbilirubinemia

•

en:normal eosinophil peroxidase activity

•

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

•

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

•

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

•

en:normal renin level

•

en:normal serum cobalamin (vitamin b12)

•

en:normal tyrosinase

•

en:no chromosomal breakage

•

en:no mucopolysacchariduria

•

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

•

en:hypertriglyceridemia

•

en:polymorphonuclear leukocytosis, episodic

•

en:hyperlysinemia

•

en:decreased metabolism of thiopurine drugs

•

en:decreased circulating aldosterone level

•

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

•

en:decreased csf hypocretin

•

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

•

en:decreased glomerular filtration rate (gfr)

•

en:decreased insulin receptor binding

•

en:decreased or normal serum factor b

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:decreased palmitate oxidation

•

en:decreased plasma total cholesterol

•

en:decreased serum alpha-2 macroglobulin levels

•

en:decreased serum ceruloplasmin

•

en:decreased serum factor b (atypical hus)

•

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

•

en:decreased thyroxine level

•

en:decreased b cells

•

en:decreased activity of thiopurine s-methyltransferase

•

en:decreased xanthine dehydrogenase activity

•

en:alpha ketoadipic aciduria

•

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

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:absence of hepatic udp-glucuronyl-transferase

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

•

en:aldolase a deficiency

•

en:androgens increased

•

en:decreased activity of mitochondrial complex i

•

en:anti-factor viii positive

•

en:axonemes show normal structure

•

en:borderline elevated low-density lipoprotein

•

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

•

en:cholesterol normal

•

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

•

en:decreased acid beta galactosidase protein and activity

•

en:decreased t cells

•

en:antineutrophil antibody positivity

•

en:defective dna repair after ultraviolet radiation damage

•

en:hematuria (less common)

•

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

•

en:extremely low creatine excretion

•

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

•

en:fumarase deficiency

•

en:glycogen storage disease type v

•

en:glycogen storage disease type vii

•

en:hemoglobin f increased

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:hepatic gamma-cystathionase deficiency

•

en:homocystinuria

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:hyperchloridura

•

en:hyperkalemia

•

en:deficiency of laminin in basement membranes

•

en:hyperglutaminemia

•

en:elevated urinary hyaluronic acid levels

•

en:high ebv viral load

•

en:elevated serum alpha-fetoprotein

•

en:elevated ammonia

•

en:elevated progesterone

•

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

•

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

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

en:diffuse deposition of calcium oxalate in various tissues

•

en:elevated 2-ketoglutarate (urine)

•

en:elevated alkaline phosphatase (in one patient)

•

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

•

en:deficiency or absence of p22-phox protein

•

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

•

en:elevated gamma-glutamyltransferase

•

en:elevated liver enzymes

•

en:elevated plasma citrulline (citrullinemia)

•

en:elevated ast and ldh, especially infantile-onset

•

en:elevated plasma galactose (galactosemia)

•

en:low csf creatinine

•

en:increased urinary prostaglandin e2

•

en:increased urinary sulfatides

•

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

•

en:leukotriene c4 synthetase deficiency

•

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

•

en:marked hypoalphalipoproteinemia (in some patients)

•

en:low leukocyte alkaline phosphatase activity

•

en:low serum magnesium

•

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

•

en:low total serum protein

•

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

•

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

•

en:increased serum vitamin b12

•

en:increased serum s-adenosylmethionine

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:increased plasma homogentisic acid (hga)

•

en:increased long-chain acylcarnitine

•

en:increased erythropoietin

•

en:increased csf interferon alpha

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

en:immediate (type i) skin test reactivity

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:hypobetalipoproteinemias

•

en:mildly elevated transaminases

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

en:hypercholesterolemia

•

en:microscopic hematuria

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:myopathy with type i fiber atrophy on muscle biopsy

•

en:serum alkaline phosphatase normal or mildly increased

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

en:galactosuria without galactosemia

•

en:undetectable urinary hypoxanthine

•

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

•

en:transient eosinophilia in first decade

•

en:thyroid peroxidase defect

•

en:thrombocytopenia

•

en:systemic amyloidosis may occur

•

en:skewed x-inactivation in females

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:serum iron low (finding)

•

en:serum complement decreased

•

en:rheumatoid factor positive (finding)

•

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

•

en:reticulocyte count increased

•

en:protein c decreased

•

en:propionic acidemia

•

en:prolonged activated partial prothrombin time (appt)

•

en:positive kveim-siltzbach skin test

•

en:phosphate normal

•

en:pentagastrin stimulation test

•

en:no hyperphenylalaninemia

•

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

•

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

•

en:normal liver histology

•

en:normal erythrocyte gs activity

•

en:normal 46,xy karyotype

•

•

en:decreased decr enzyme activity

•

en:foam cells in bone marrow and renal glomeruli

•

en:alpha fetoprotein increased

•

en:decreased levels of cpt2 protein

•

en:decreased intracellular fmr protein

•

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

•

en:decreased aminoacylase-1 activity

•

en:decreased adiponectin

•

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

•

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

•

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

•

en:cell studies show increased dna breakage

•

en:cd4+/cd8+ ratio is reversed

•

en:bile contains cholesterol crystals

•

en:aneuploidy of the x chromosome

•

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:agammaglobulinemia

•

en:acute-phase reactants during fever

•

en:accumulation of unprocessed mt-trna intermediates in skeletal muscle cells and fibroblasts

•

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

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

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

•

en:abnormal serum glycoproteins

•

en:abnormal liver function tests (less common)

•

en:abnormal igfr1 function

•

en:abnormal fecal fat

•

en:4-hydroxyphenylacetic aciduria

•

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

•

en:very long chain fatty acid accumulation

•

en:decreased methionine synthase activity

•

en:decreased mitochondrial nadp(h)

•

en:fibroblasts shows defects in oxidative phosphorylation

•

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

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:elevated urinary 3-methylglutaconate

•

en:elevated sepiapterin in csf

•

en:elevated plasma insulin

•

en:elevated plasma follicle stimulating hormone (fsh)

•

en:elevated plasma desmosterol

•

en:elevated plasma and urine succinylacetone

•

en:elevated il1-beta

•

en:elevated erythrocyte adenosine deaminase activity

•

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

•

en:elevated 7-dehydrocholesterol

•

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

•

en:defect in n- and o-glycosylation

•

en:decreased mucosal alkaline phosphatase

•

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

•

en:decreased thrombospondin

•

en:decreased serum iron (in some patients)

•

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

•

en:decreased serum carnitine in acute stage

•

en:decreased serum androgens

•

en:decreased serum 18-ohb

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:decreased plasma glycine

•

en:decreased phk activity in liver

•

en:decreased peroxisomal fatty acid beta-oxidation

•

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

•

en:decreased numbers of t regulatory cells

•

en:urinary prostaglandin e

•

en:increased urinary s-sulfocysteine

•

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

•

en:low to normal serum calcium

•

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

•

en:normal exocrine pancreatic function

•

en:normal collagen type i studies

•

en:normal calcium (female)

•

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

•

en:nephrotic syndrome

•

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

•

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

•

en:molybdenum cofactor deficiency

•

en:median mean platelet volume 13fl

•

en:march myoglobinuria

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:low serum calcium

•

en:normal male karyotype (46,xy)

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:low or absent luteinizing hormone (lh)

•

en:low density lipoprotein increased

•

en:low 25-oh-vitamin d level

•

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

•

en:liver transaminases normal to slightly increased

•

en:lack of lysosomal inclusions in visceral organs

•

en:increased urinary neopterin

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased urinary 2-oxoglutaric acid

•

en:3-methylglutaconic aciduria

•

en:increased serum bile acids

•

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

•

en:normal lysl hydroxylase activity

•

en:normal or mildly reduced sphingomyelinase activity

•

en:increased serum alanine

•

en:serum triglycerides normal

•

en:gilbert syndrome

•

en:very low leptin level

•

en:very low density lipoprotein increased

•

en:vacuolated lymphocytes

•

en:urine cortisol, increased

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:uric acid normal

•

en:undetectable epinephrine (adrenaline) in plasma, urine, csf

•

•

en:transferrin saturation increased

•

en:thrombocytosis (in some patients)

•

en:severe amyloid angiopathy

•

en:serum and csf lactate may be increased

•

en:normal pyridinoline excretion in urine

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

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

•

en:raised c-reactive protein

•

en:prolonged prothrombin time (pt)

•

en:prolonged activated partial thromboplastin time (aptt)

•

•

en:platelet glycoprotein iiia deficiency

•

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:phosphaturia may disappear after a long period of time

•

en:persistent ebv viremia

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

en:normal serum creatine kinase

•

en:increased serum and csf glycine

•

en:increased serum bilirubin (in some patients)

•

en:increased prevalence among the native american lumbee indians

•

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

•

en:decreased urinary excretion of uromodulin

•

en:decreased serum glucosyltransferase (ggt) activity

•

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

•

en:decreased s-ado:saicar ratio

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

en:decreased nasal nitric oxide (in some patients)

•

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

•

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

•

en:decreased glycerol kinase activity

•

en:decreased fibroblast alpha-mannosidase

•

en:decreased erythrocyte plasmalogen

•

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

•

en:decreased c3 antigen

•

en:dyslipidemia

•

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

•

en:cystathionine beta-synthase deficiency disease

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

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

•

en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin heavy chain (147100, 14q32) locus

•

en:chondroitin 6-sulfate excretion in urine

•

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

•

•

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

•

en:anti-ssb positive

•

en:accumulation of cholesterol esters in various tissues

•

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

•

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

•

en:delayed plasma clearance of unconjugated bromsulphthalein, an anionic diagnostic dye

•

en:decreased serum and muscle coenzyme q

•

en:electrolyturia (1 patient)

•

en:hydrocortisone decreased

•

en:increased free cyanocobalamin in fibroblasts

•

en:increased csf lactate

•

en:increased csf glycine

•

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

•

en:impaired creatine uptake in fibroblasts

•

•

en:hypouricemia

•

en:hyperuricosuria

•

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

•

en:hyperglycemias, postprandial

•

en:hypercalcemia

•

en:hyperarginemia

•

en:hyperlipoproteinemia type i

•

en:high m-component

•

en:elevated prothrombin time

•

en:elevated 3-methylcitric acid

•

en:hepatic lipase deficiency (disorder)

•

en:elevated liver transaminases

•

en:elevated plasma estrogen

•

en:elevated plasma phytanic acid

•

en:elevated dihydrobiopterin in csf

•

en:elevated pyruvate (in most patients)

•

en:generalized aminoaciduria

•

en:glucose-6-phosphate deficiency

•

en:gm2-ganglioside accumulation

•

en:hematuria, gross and microscopic

•

en:fibronectin decreased

•

en:transient neonatal hypocalcemia (2p21del)

•

en:thyroid dyshormonogenesis 5

•

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

•

en:transcobalamin ii deficiency

•

en:variable respiratory chain enzyme deficiency

•

en:translocation of chromosomes 9 and 13

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

en:variable hyperlipidemia

•

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

•

en:vitamin k deficiency

•

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

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846533 • caches: c1=8 c2=1003 c3=1

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