Diko : en:elevated 7-dehydrocholesterol

en:elevated 7-dehydrocholesterol

Catégories

Nom

Informations lexicales

Langue:anglais

Associations d'idées

[F]

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1000

en:urinary calcium-creatinine ratio < 0.01:1 supports diagnosis

•

en:elevated fasting glucose

•

en:serum chloride level decreased (finding)

•

en:decreased activity of mitochondrial respiratory chain complex i

•

en:hemoglobin f increased

•

en:high-resolution electron microscopy tomography shows absence of projection c2b at the central pair (cp) apparatus of cilia

•

en:serum lactate is usually normal

•

en:absent alkyl-dhap synthase activity

•

en:decreased activity of mitochondrial respiratory complexes

•

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

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

en:decreased csf homovanillic acid (hva)

•

en:elevated levels of vitamin b12

•

en:normal to increased plasma threonine

•

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

•

en:p5c levels increased in urine

•

en:fibroblasts attach poorly

•

en:normal transferrin saturation

•

en:increased urinary homovanillic acid (hva)

•

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

•

en:immotile or weakly motile cilia

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

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

•

en:decreased activity of dihydrofolate reductase

•

en:defective glcnac-pi synthesis

•

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

•

en:increased urinary oxylate

•

en:low cholesterol esterification rates

•

en:normal serum and mucosal iga

•

en:increased urinary phospholipids

•

en:decreased activity of the pdh phosphatase

•

en:decreased fbp1 enzyme activity

•

en:decreased glutamine in bodily fluids

•

en:decreased or normal plasma insulin

•

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

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:lactate dehydrogenase increased

•

en:low apolipoprotein

•

en:calciuria

•

en:decreased activity of triosephosphate isomerase

•

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

•

en:defect in retrograde intraflagellar transport in cilia

•

en:elevated serum levels of 2-prime deoxyadenosine

•

en:high m-component

•

en:increased levels of carcinoembryonic antigen

•

en:increased total bilirubin may occur

•

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

•

en:3-methylglutaconic aciduria (3-mgc)

•

en:decreased insulin receptor binding

•

en:decreased serum c3 (atypical hus)

•

en:urinary excretion of mucopolysaccharides

•

en:high serum guanosine levels

•

en:increased serum acyl carnitines

•

en:low fasting glucose (in some patients)

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:decreased hepatic gaba transaminase activity

•

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

•

en:increased coproporphyrin isomer iii:i ratio (hcp, feces)

•

en:hyperchloremia (mean 114 mm)

•

en:absent or severely reduced levels of serum immunoglobulins

•

en:decreased scad activity

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:cholesterol normal

•

en:antithrombin iii decreased

•

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

•

en:increased urinary glycerol

•

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

•

en:eosinophilia, mild

•

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

•

en:hyperuricuria

•

en:hypoglycemia, fasting

•

en:increased serum s-adenosylmethionine

•

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

•

en:normal sedimentation rate

•

en:no mucopolysacchariduria

•

en:low 25-oh-vitamin d level

•

en:severely decreased antigen levels of vwf and factor viii

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

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

•

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

•

en:increased csf homovanillic acid (hva)

•

en:decreased telomerase activity

•

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

•

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

•

en:serum osmolality decreased

•

en:aldosterone concentration below normal

•

en:electrocardiogram abnormal

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:hypoproteinemia due to hypercatabolism

•

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

•

en:keratan sulfaturia in some patients

•

en:serum ferritin normal

•

en:thyroid peroxidase defect

•

en:decreased or absent gch1 activity

•

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

•

en:hyperthreoninemia

•

en:heteroplasmic partial duplication of mtdna

•

en:generalized aminoaciduria

•

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

•

en:elevated acth

•

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

•

en:decreased serum leptin

•

en:chondroitin 6-sulfate excretion in urine

•

en:pms show deficient oxidation of debrisoquine

•

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

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:prolonged activated partial thromboplastin time (aptt)

•

en:fibroblasts show decreased mitochondrial complex v activity

•

en:pentagastrin stimulation test

•

en:hypoalbuminemia (in 83%)

•

en:hyperoxalaemia

•

en:hyperbilirubinemia in those with liver failure

•

en:mitochondrial deletions

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:decreased complement factor d

•

en:broad tissue deposition of amylopectin-like material

•

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

•

en:serum gastrin increased

•

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

•

en:absent anti-insulin receptor antibodies

•

en:aldolase a deficiency

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

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

•

en:increased susceptibility to ebv infection

•

en:intermittent severe hypoglycemia (in some patients)

•

en:lactic acidemia

•

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

•

en:march myoglobinuria

•

en:normal lysosomal hydrolases

•

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

•

en:hypocalcemia, transient

•

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

•

en:leukotriene c4 synthetase deficiency

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased serum lactate

•

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

•

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

•

en:decreased plasma zinc levels

•

en:coombs positive hemolytic anemia

•

en:cd4/cd8 ratio decreased

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

en:normal axonal flare response after intradermal histamine injection

•

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

•

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

•

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

•

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

•

en:elevated 3-hydroxypropionic acid

•

en:elevated alkaline phosphatase

•

en:hypertriglyceridemia (in some patients)

•

en:increased serum and csf glycine

•

en:increased serum bile acids

•

en:low density lipoprotein increased

•

en:microscopic hematuria

•

en:serum aldosterone elevated

•

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

•

en:shortened telomeres (in 1 of 2 patients)

•

en:reduced erythrocyte gs activity

•

en:low to normal plasma methionine

•

en:increased serum lactate dehydrogenase (ldh)

•

en:vitamin b12 deficiency (in some patients)

•

en:disorganized growth plate cartilage

•

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

•

en:antiribonuclear protein positive

•

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

•

en:defective mitochondrial respiratory enzyme activity

•

en:low ldl cholesterol

•

en:large spermatozoa

•

en:leukocytosis

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:low-to-normal platelet count

•

en:median mean platelet volume 13fl

•

en:low plasma tryptophan (inflammatory type b)

•

en:markedly reduced igg levels

•

en:mild to moderate hyperammonemia

•

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

•

en:ketosis

•

en:normal csf neurotransmitters

•

en:lack of lysosomal inclusions in visceral organs

•

en:increased urinary 2-butanone

•

en:iron binding capacity total increased

•

en:iodide organification defect

•

en:increased urinary excretion of l-xylulose

•

en:increased urinary dicarboxylic acid, transient

•

en:increased urinary carnitine esters

•

en:normal pyridinoline excretion in urine

•

en:increased uric acid with exercise

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased tissue long-chain fatty acids

•

en:increased serum gm-csf

•

en:increased serum glycerol

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased serum creatine kinase in acute stage

•

en:normal lactate (hcs)

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

en:normal serum parathyroid hormone (pth)

•

en:rheumatoid factor negative

•

en:3-methylglutaric aciduria (3-mga)

•

en:vacuolated lymphocytes

•

en:tyrosine iodination defect

•

en:tyrosinemia

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:translocation of chromosomes 9 and 13

•

en:transferrin saturation increased

•

en:telomere shortening

•

en:t-cell deficit

•

en:slightly increased serum alkaline phosphatase may occur

•

en:serum phosphate concentration below normal

•

en:serum carnitine deficiency

•

en:serum and csf lactate may be increased

•

en:reduced unsaturated serum cobalamin binding capacity

•

en:normal urinary pterins

•

en:reduced platelet aggregation response to collagen and thrombin

•

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

•

en:reduced iga

•

en:proteinuria in those with cystic kidneys

•

en:prolinuria

•

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

•

en:premature separation of centromeric heterochromatin

•

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

•

en:platelet glycoprotein iiia deficiency

•

en:increased serum bilirubin (in some patients)

•

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

•

en:orotic acid crystalluria

•

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

•

en:increased serum creatine kinase (1 family)

•

en:increased gamma-interferon

•

en:increased serum ammonia (group b)

•

en:chronic hypoxemia

•

en:decreased serum haptoglobin

•

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

•

en:decreased plasma glycine

•

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

•

en:decreased or normal serum factor i

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

en:decreased levels of coenzyme q10 in skeletal muscle (5-35%)

•

en:decreased hepatic udp-glucuronyl-transferase activity

•

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

•

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

•

en:decreased activity of thiopurine s-methyltransferase

•

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

•

en:borderline elevated low-density lipoprotein

•

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

•

en:blood pyruvic acid increased

•

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

•

en:aspartylglycosaminuria

•

en:antiphospholipid antibody

•

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

•

en:aldosterone level increased above normal

•

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

•

en:abnormal oral glucose tolerance

•

en:abnormal lipid profile

•

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

•

en:abnormal cartilage collagen on em

•

en:5-alpha-reductase-2 enzyme deficiency

•

en:abnormal fecal fat

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

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

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:glycogen storage disease type vii

•

en:increased rai (radioactive iodine) uptake

•

en:increased prv-1 (162860) mrna

•

en:increased osmotic fragility

•

en:increased neopterin in urine and csf

•

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

•

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

•

en:increased blood alanine

•

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

•

en:hyperinsulinemia

•

en:hyperglycinemia (1 patient)

•

en:hydrocortisone decreased

•

en:hepatic lipase deficiency (disorder)

•

en:gm2-ganglioside accumulation

•

en:glutathione deficiency

•

en:dilated rough endoplasmic reticulum (rer)

•

en:glucose-6-phosphate deficiency

•

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

•

en:fasting chylomicronemia

•

en:eosinophilia

•

en:elevated urinary pge(2) levels

•

en:elevated serum uric acid concentrations

•

en:elevated serum alpha-fetoprotein

•

en:elevated gamma-glutamyltransferase

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:elevated branched-chain amino acids (in most patients)

•

en:elevated ast and ldh, especially infantile-onset

•

en:electron microscopy of foam cells shows lamellar inclusions

•

en:direct hyperbilirubinemia

•

en:abnormal acylcarnitine profiles

•

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

•

en:abnormal liver enzymes, episodic

•

en:increased total and conjugated bilirubin

•

en:low serum levels of branched-chain amino acids

•

en:low or undetectable insulin

•

en:low or absent thyrotropin (tsh)

•

en:low or absent prolactin (pl)

•

en:low growth hormone levels

•

en:lower total cholesterol

•

en:loss of ciliary beat coordination

•

en:lactate pyruvate ratio normal

•

en:increased urinary mannose-containing oligosaccharides

•

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

•

en:increased urinary 3-oh-propionic acid

•

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

•

en:increased tissue long-chain acylcarnitines

•

en:lysosomal-like storage vacuoles in various tissues

•

en:increased serum creatine kinase (less common)

•

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

•

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

•

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

•

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

•

en:increased il-6

•

en:increased csf immunoglobulin levels

•

en:increased creatinine

•

en:increased creatine kinase, mild to moderate

•

en:increased bone-specific alkaline phosphatase

•

en:increased biopterin in urine and csf

•

en:increased ammonia with exercise

•

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

•

en:low urinary orotic acid

•

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

•

en:immunoglobulin a decreased

•

en:polyploid sperm heads

•

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

•

en:abnormal liver enzymes during illness

•

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

•

en:tsh decreased

•

en:transient neonatal hypoglycemia (2p21del)

•

en:transient eosinophilia in first decade

•

en:transferase deficiency galactosemia

•

en:skewed x-inactivation in females

•

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

•

en:serum phosphate normal

•

en:serum calcium normal

•

en:relatively low urinary pge-m levels

•

en:positive urine dnph screening test

•

en:plasma triglycerides increased

•

en:methemoglobinemia

•

en:phospholipid antibody positive

•

en:partial deficiency of factor xi(c)

•

en:no metabolic abnormalities

•

en:normal to slightly high alkaline phosphatase

•

en:normal total urinary coproporphyrin

•

en:normal serum phosphorus

•

en:normal serum erythropoietin (epo, 133170)

•

en:normal liver histology

•

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

•

en:normal aldosterone

•

en:nonketotic hypoglycemia

•

en:mildly prolonged bleeding time 10-12 minutes

•

en:mildly elevated transaminases

•

en:inappropriately normal or increased plasma hepcidin

•

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

•

en:hypophosphatemia (less common)

•

en:decreased blood levels of cationic amino acids

•

en:decreased serum alpha-2 macroglobulin levels

•

en:decreased red cell pyruvate kinase activity

•

en:decreased plasma serine

•

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

•

en:decreased levels of serum vitamin b12

•

en:decreased ldl cholesterol

•

en:decreased fibroblast iduronate sulfatase

•

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

•

en:decreased eno3 activity

•

en:decreased dna excision repair

•

en:decreased ciliary motility

•

en:decreased cerebrospinal fluid folic acid

•

en:decreased c3 activity

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

en:decreased tissue total and free carnitine

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

en:decreased activities of multiple sulfatases

•

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

•

en:coarse metachromatic granules in white blood cells

•

en:chronic hypercapnia

•

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

•

en:cerebrospinal fluid oligoclonal bands

•

en:cells show increased sensitivity to ionizing radiation

•

en:alkaline phosphatase decreased

•

en:accumulation of shortened dolichol-linked oligosaccharides in patient fibroblasts

•

en:hyponatremia in infancy

•

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

•

en:absent ch50 activity in complete c4 deficiency

•

en:decreased thyroxine level

•

en:decreased phytanic acid oxidase activity

•

en:decreased xanthine dehydrogenase activity

•

en:elevated serum levels of adenosine

•

en:hypertriglyceridemia, transient

•

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

•

en:high serum osmolality

•

en:high plasma triglyceride levels

•

en:hereditary factor x deficiency

•

en:gonadotrophin increased

•

en:generalized amyloid deposition

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:fragmentation of the mitochondrial network

•

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

•

en:fasting ketosis

•

en:euvolemia

•

en:elevated testosterone

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

en:elevated plasma desmosterol

•

en:diaminoaciduria (arginuria, lysinuria, cystinuria, ornithinuria)

•

en:deficiency of fat-soluble vitamins

•

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

•

en:deletion of chromosome 18p11.2

•

en:elevated plasma and urine succinylacetone

•

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

•

en:elevated 2-ketoglutarate (urine)

•

en:elevated 3-methylcitric acid

•

en:elevated afp (endodermal sinus tumor)

•

en:elevated erythrocyte adenosine deaminase activity

•

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

•

en:elevated free carnitine

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:increased urinary 2-ketoglutarate (variable)

•

en:increased tissue levels of triglycerides

•

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

•

en:increased urinary 3-methylglutaconic acid

•

en:increased urine oligosaccharides

•

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

•

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

•

en:increased urinary excretion of camp

•

en:increased serum unconjugated bilirubin

•

en:karyomegaly may be found in other visceral organs

•

en:iron overload (in some patients)

•

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

•

en:increased ige level

•

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

•

en:increased serum methionine (reported in 2 cases)

•

en:increased serum lactate, particularly after exercise

•

en:increased serum citrulline (group b)

•

en:increased serum beta-hexosaminidase

•

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

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased prevalence among the native american lumbee indians

•

en:increased plasma vldl, ldl

•

en:increased plasma pipecolic acid

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

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

•

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

•

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

•

en:increased creatine kinase (ck)

•

en:ketoacidosis

•

en:serum bilirubin increased

•

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

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:impaired o-glycosylation

•

en:serum creatine kinase may be normal or increased

•

en:serum cortisol decreased

•

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

•

en:reticulocytosis

•

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

•

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

•

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

•

en:pyruvate-induced insulin secretion

•

en:positive urinary bratton-marshall test

•

en:parathyroid hormone normal

•

en:parathyroid hormone (pth) absent to low

•

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

•

en:normal urinary cyclic amp response to pth administration

•

en:low serum levels of ketone bodies

•

en:normal serum cobalamin (vitamin b12)

•

en:normal phytanic acid

•

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

•

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

•

en:normal exocrine pancreatic function

•

en:normal csf 5-hiaa

•

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:moderately decreased to normal phk activity in skeletal muscle

•

en:methylmalonic aciduria

•

en:methemoglobin concentration 12 to 19%

•

en:medium chain dicarboxylic aciduria

•

en:median mean platelet volume (mpv) 18fl

•

en:low to very low hdl cholesterol

•

en:inappropriately low urine osmolality

•

en:abnormal transaminases (1 patient)

•

en:hyponatremia

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

en:decreased plasminogen activity

•

en:decreased plasma total and free carnitine

•

en:decreased plasma and urinary ornithine

•

en:decreased or normal serum c3

•

en:decreased or absent serum citrulline

•

en:decreased or absent apolipoprotein a-i

•

en:decreased numbers of t regulatory cells

•

en:decreased mucosal alkaline phosphatase

•

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

•

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

•

en:decreased fibroblast alpha-mannosidase

•

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

•

en:decreased csf serine

•

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

•

en:decreased serum cholesterol (in some)

•

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

•

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

•

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

•

en:cytoplasmic lamellar concentric inclusions

•

en:cystathionine beta-synthase deficiency disease

•

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

•

en:chromosomal instability

•

en:cerebrospinal fluid lymphocytosis

•

en:antineutrophil antibody positivity

•

en:anti-factor viii positive

•

en:aminoaciduria (less common)

•

en:abnormal liver function tests (in some patients)

•

en:abnormal columnization of chondrocytes

•

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

•

en:decreased serum acth

•

en:decreased serum iga

•

en:hypomagnesemia

•

en:fasting hypoglycemia (early in disease course)

•

en:hypofibrinogenemia

•

en:hypocalcemia

•

en:hypertriglyceridemia

•

en:hyperglycolic aciduria

•

en:hyperchloridura

•

en:hypercalcemia

•

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

•

en:homocystinuria

•

en:homocitrullinuria

•

en:hereditary angioedema

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:folic acid deficiency

•

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

•

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

•

en:decreased serum luteinizing hormone (lh)

•

en:elevated serum phosphate in heterozygotes

•

en:elevated serum long-chain fatty acids

•

en:elevated plasma citrulline (citrullinemia)

•

en:elevated hepatic transaminases

•

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

•

en:elevated gastrin concentration

•

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

•

en:elevated androstenedione and testosterone

•

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

•

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

•

en:deficiency of serum properdin p factor

•

en:deficiency of fructokinase

•

en:defect in chylomicron secretion

•

en:decreased whole blood serotonin

•

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

•

en:elevated cerebrospinal fluid (csf) protein

•

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

•

en:increased urinary ketones

•

en:metabolic acidosis

•

en:median mean platelet volume (mpv) 12.5fl

•

en:low rai (radioactive iodine) uptake

•

en:low or normal serum igm

•

en:low alkaline phosphatase

•

en:long-chain dicarboxylic aciduria

•

en:lack of excessive parenchymal iron storage

•

en:isovalericaciduria

•

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

•

en:increased urinary sialylglycopeptides

•

en:increased urinary prostaglandin e2

•

en:increased urinary potassium

•

en:increased urinary orotic acid (in some patients)

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:mildly decreased serum creatinine

•

en:increased serum uric acid

•

en:increased serum triiodothyronine (t3)

•

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

•

en:increased serum creatine kinase in patients with muscle involvement

•

en:increased plasma pristanic acid

•

en:increased plasma homogentisic acid (hga)

•

en:increased phytanic acid in body tissues and fluids

•

en:increased long-chain acylcarnitine

•

en:increased il6, episodic

•

en:increased il18

•

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

•

en:increased fas ligand

•

en:increased erythropoietin

•

en:microtubule disorganization in some cilia

•

en:mild elevation of transaminases

•

en:igg, elevated

•

en:protein c decreased

•

en:thrombocytosis (in some patients)

•

en:very long chain fatty acid accumulation

•

en:urinary prostaglandin e

•

en:uremia

•

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

•

en:thrombocytopenia

•

en:systemic amyloidosis may occur

•

en:serum folate normal

•

en:serum cortisol elevated

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:saccharopine dehydrogenase deficiency

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:protein urine absent

•

en:presence of vacuoles on muscle biopsy

•

en:myoglobinuria (reported in 1 patient)

•

en:predominance of the d-stereoisomer

•

en:plasmalogen deficiency

•

en:pipecolic acidemia

•

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

•

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

•

en:no increase of muscle lactate with ischemic exercise testing

•

en:normal urinary 17-ketosteroids

•

en:normal serum complement levels

•

en:normal plasma renin

•

en:normal parathyroid hormone (female)

•

en:normal or mildly increased serum creatine kinase

•

en:normal leukocyte and platelet counts

•

en:normal iga levels

•

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

•

en:increased di- and asialo-transferrin

•

en:rheumatoid factor positive (finding)

•

en:i-cell disease

•

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

•

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

•

en:decreased antithrombin iii (rare)

•

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

•

en:decreased adiponectin

•

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

•

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

•

en:decreased activity of galactocerebrosidase

•

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

•

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

•

en:cystathioninuria (lab finding)

•

en:cystathioninemia

•

en:cholesterol low

•

en:at least 2 complementation groups

•

en:antithrombin iii deficiency

•

en:decreased fibrinogen (in some patients)

•

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

•

en:acute-phase reactants during fever

•

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

•

en:accumulation of guanidinoacetate in brain

•

en:absent tyrosinase activity

•

en:absence of outer dynein arms

•

en:absence of chylomicrons in lymph and plasma

•

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

•

en:abnormal liver function tests (less common)

•

en:abnormality of the level of lipoprotein cholesterol

•

en:very low igg

•

en:t cells may be increased or decreased

•

en:transient hyperlipidemia

•

en:hypokalemia occurs during paralytic attacks

•

en:decreased csf methyltetrahydrofolate (mthf)

•

en:abnormal serum transferrin pattern (in some patients)

•

en:decreased levels of certain coagulation factors

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:hypogammaglobulinemia

•

en:decreased or absent serum ceruloplasmin

•

en:hypermethioninemia, progressive

•

en:hyperhomocystinemia

•

en:hypergammaglobulinemia

•

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

•

en:hyperbilirubinemia

•

en:high urinary orotic acid

•

en:high plasma citrulline (100-300 micromolar)

•

en:gaucher disease, type 1

•

en:excessive urinary 5-oxo-l-proline

•

en:elevated urinary phosphoethanolamine

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:hypercholesterolemia

•

en:elevated urinary 3-methylglutaconate

•

en:decreased plasma gonadotrophin

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:elevated uric acid on urinalysis (in some patients)

•

en:decreased tetrasialotransferrin levels

•

en:decreased urinary sulfate

•

en:decreased von willebrand factor

•

en:decreased transferrin increased serum iron

•

en:dolichyl-p-glc:man(9)glcnac(2)-pp-dolichyl glucosyltransferase deficiency

•

en:elevated erythrocyte adenosine deaminase

•

en:elevated total cholesterol (seen in heterozygotes as well)

•

en:elevated resting serum lactate, increased with exercise

•

en:decreased serum factor i (atypical hus)

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:elevated mchc

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:lack of ciliary motility

•

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

•

en:increased urinary isobutyryl glycine

•

en:isovaleric acidemia

•

en:increased urinary and serum glycine

•

en:increased urinary 7-biopterin (primapterin)

•

en:increased urinary 2-methylbutyrylglycine

•

en:increased thyroid-stimulating hormone (tsh)

•

en:increased serum lipoproteins

•

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

•

en:increased lactate in spinal fluid

•

en:increased serum ige

•

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

•

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

•

en:increased plasma proinsulin

•

en:increased interferon-alpha signal

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:increased free cyanocobalamin in fibroblasts

•

en:increased csf pyruvic acid

•

en:increased 18-ohb to aldosterone ratio

•

en:long-chain ketonuria

•

en:impaired creatine uptake in fibroblasts

•

en:hypoxia

•

en:lactate high

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:low or absent follicle stimulating hormone (fsh)

•

en:normal renin level

•

en:no lactic acidosis

•

en:hypoalphalipoproteinemia

•

en:no ketonuria

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:no evidence of common prenatal infections

•

en:normal transferrin isoelectric profile

•

en:normal to mildly increased mucopolysacchariduria

•

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

•

en:normal serum folate levels

•

en:normal serum creatine kinase

•

en:normal or mildly reduced sphingomyelinase activity

•

en:low or absent luteinizing hormone (lh)

•

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

•

en:nephrotic syndrome

•

en:multiple autoantibodies

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:lysyl hydroxylase deficiency

•

en:low to low-normal magnesium

•

en:low or undetectable c-peptide

•

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

•

en:hypogammaglobulinemia, profound

•

en:decreased serum androgens

•

en:hypoalbuminemia

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

en:decreased serum factor h (atypical hus)

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

en:decreased neopterin and biopterin in urine

•

en:decreased natural killer cells

•

en:decreased levels of cpt2 protein

•

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

•

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

•

en:decreased circulating aldosterone level

•

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

•

en:cytosolic phosphoenolpyruvate carboxykinase deficiency

•

en:cytogenetic deletion of chromosome 19q13

•

en:cortisol does not decrease on dexamethasone suppression test

•

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

•

en:continuous urinary iodine loss

•

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

•

en:bleeding time normal

•

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

•

en:axonemes show normal structure

•

en:absent axonal flare response to intradermal histamine injection

•

en:abnormal liver function tests (sgot, sgpt)

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

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

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

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

•

en:defective dna repair

•

en:elevated 17-hydroxyprogesterone

•

en:hypertryptophanemia

•

en:hair bulb tyrosinase present

•

en:hyperphosphatemia

•

en:hyperglutaminemia

•

en:hypercholesterolemia (reported in 2 patients)

•

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

•

en:histiocytic infiltration of liver, spleen, and lungs

•

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

•

en:high sweat sodium and chloride

•

en:high serum inosine levels

•

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

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:high ebv viral load

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:elevated csf glycine

•

en:gamma-glutamylcysteine deficiency

•

en:fucosidosis

•

en:foam cells in visceral organs and cns

•

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

•

en:fibrinogen decreased

•

en:female carriers show markedly skewed x inactivation

•

en:elevated urinary epinephrine

•

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

•

en:elevated sweat chloride (some)

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:elevated plasma stigmasterol

•

en:pancreatic trypsinogen deficiency

•

en:serum copper decreased

•

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

•

en:increased serum growth hormone levels

•

en:low or absent growth hormone (gh)

•

en:low maximal oxygen uptake on exercise testing

•

en:low absolute lymphocyte count

•

en:ketoses, metabolic

•

en:karyotype analysis normal finding

•

en:increased urinary vanillylmandelic acid (vma)

•

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

•

en:increased triglycerides (less common)

•

en:increased serum pyruvate, mild

•

en:increased serum prostaglandin e2

•

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

•

en:low total serum protein

•

en:increased serum beta-carotene

•

en:increased serum acylcarnitines

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:increased plasma renin activity

•

en:increased plasma levels of bile acid intermediates

•

en:increased lactate: pyruvate ratio (group b)

•

en:increased csf interferon alpha

•

en:increased chromosomal breakage

•

en:increased 11-deoxycorticosterone

•

en:inappropriately increased urine osmolality

•

en:impaired n-glycosylation

•

en:low or normal serum calcium

•

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

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

en:reduced bending capacity of cilia

•

en:persistent ebv viremia

•

en:urocanase deficiency

•

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

•

en:tay-sachs disease

•

en:structural abnormalities seen on chromosome analysis

•

en:shortened telomeres (classic feature, nola3 patient)

•

en:serum testosterone decreased

•

en:serum prolactin decreased

•

en:serum calcitonin, increased

•

en:secondary decrease of plasma free carnitine

•

en:resistance to 1,25-dihydroxyvitamin d3

•

en:platelet aggregation decreased

•

en:mildly elevated hepatic enzymes

•

en:no increased sensitivity to oxidative species

•

en:no elevation of free fatty acids

•

en:normocalcemia

•

en:normal serum liver enzymes

•

en:normal serum 25-hydroxyvitamin d3

•

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

•

en:normal b12

•

en:myoglobinuria after exertion (in some patients)

•

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

•

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

•

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

•

en:hyperlipoproteinemia type iib

•

en:low serum ceruloplasmin

•

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

•

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

•

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

•

en:aprt deficiency measured in erythrocyte lysate

•

en:aminoaciduria, mild (in some patients)

•

en:aminoaciduria

•

en:alkaline phosphatase serum increased

•

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

•

en:absent axonal flare response after intradermal histamine injection

•

en:abnormal transferrin isoelectric focusing (ief)

•

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

•

en:abnormal cardiolipin subspecies composition

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:urine cortisol, increased

•

en:chromosomal mosaicism in cultured cells

•

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

•

en:severely decreased palmitate oxidation

•

en:serum pristanic acid increased

•

en:serum calcium elevated

•

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

•

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

•

en:postprandial hyperglycemia (early in disease course)

•

en:plasma protein c deficiency

•

en:plasma ammonia not elevated

•

en:hemizygous deletion at 4p16.3

•

en:phosphaturia may disappear after a long period of time

•

en:b lymphocytopenia

•

en:abnormal serum glycoproteins

•

en:decreased cpt1 activity

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:hematuria, macroscopic and microscopic

•

en:hawkinsinuria

•

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

•

en:glycinuria

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

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

•

en:elevated urinary mevalonic acid

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:elevated plasma propionylcarnitine

•

en:elevated gamma-glutamyltransferase (ggt)

•

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

•

en:hematuria

•

en:deficiency or absence of p22-phox protein

•

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

•

en:defect in oxidative phosphorylation

•

en:decreased telomere length in lymphocytes

•

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

•

en:decreased serum and muscle coenzyme q

•

en:decreased or absent histidase activity

•

en:decreased or absent dihydropteridine reductase activity

•

en:decreased neopterin and biopterin in csf

•

en:decreased decr enzyme activity

•

en:deficiency of laminin in basement membranes

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

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

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:glomerular filtration rate decreased

•

en:elevated circulating parathyroid hormone (pth) level

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:ferritin decreased

•

en:elevated plasma insulin

•

en:elevated plasma ammonia

•

en:hyperglycinemia

•

en:elevated calcitonin

•

en:hypercalciuria (in some patients)

•

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

•

en:hypobetalipoproteinemias

•

en:hypocalcemia (male)

•

en:hypokalemia during attacks

•

en:hypoketotic hypoglycemia

•

en:igm deficiency

•

en:impaired response to gm-csf

•

en:increased 18-hydroxycortisol

•

en:increased ck-mb

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

en:increased hepatic parenchymal cell stainable iron

•

en:increased serum alanine (1 patient)

•

en:elevated 1,25(oh)2 d3

•

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

•

en:aberrant gamma-interferon-mediated inflammation

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

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

•

en:increased serum thyroid-stimulating hormone (tsh)

•

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

•

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

•

en:abnormal liver enzymes, intermittent (1 patient)

•

en:abnormal liver function test

•

en:abnormal n-glycosylation of transferrin

•

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

•

en:aminoaciduria (in some patients)

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

en:bilirubin conjugated increased

•

en:decreased acid sphingomyelinase activity

•

en:decreased clot retraction

•

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

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

en:decreased galactokinase activity

•

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

•

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

•

en:decreased nk cells (in some patients)

•

en:decreased or normal serum factor b

•

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

•

en:decreased plasma free carnitine

•

en:decreased plasma lpl levels (in some patients)

•

en:decreased serum cobalamin

•

en:decreased serum factor b (atypical hus)

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

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

•

en:serum complement decreased

•

en:no cartilage staining with toluidine blue

•

en:no chromosome breakage

•

en:peroxisome deficiency

•

en:phosphaturia (in some)

•

en:plasma aldosterone normal

•

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

•

en:premature chromosome condensation

•

en:reactive hypoglycemia

•

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

•

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

•

en:serum cholesterol normal

•

en:serum creatinine raised

•

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

•

en:serum iron raised

•

en:sialylation defects

•

en:slightly elevated 24-hour mean plasma cortisol

•

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

•

en:submucosal macrophages filled with sphingolipids

•

en:t-lymphocytopenia

•

en:thyroid dyshormonogenesis 4

•

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

•

en:type iii collagen defect

•

en:tyrosine loss

•

en:variable hypoglycemia

•

en:normal sweat chloride (3 of 3 patients)

•

en:normal or increased serum phytanic acid

•

en:increased urinary 3-oh-butyric acid

•

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

•

en:increased urinary citric acid cycle intermediates

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:increased urinary hypoxanthine

•

en:increased urinary sulfatides

•

en:increased urinary tiglylglycine

•

en:increased urine porphyrins at times

•

en:infantile hypophosphatasia

•

en:intracellular accumulation of unesterified cholesterol

•

en:iron low

•

en:isovalerylglycinuria

•

en:lipopigment in extraneuronal cells

•

en:normal extrarenal responses to ddavp administration

•

en:liver enzymes abnormal

•

en:low-to-normal csf lactate

•

en:marked elevation of erythrocyte sedimentation rate

•

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

•

en:mildly elevated blood ammonia

•

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

•

en:myoglobinuria

•

en:normal arterial oxygen saturation

•

en:normal complex ii activity

•

en:normal constitutional karyotype

•

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

•

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

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Génériques

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en:elevated

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846796 • caches: c1=12 c2=1011 c3=2

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