Le Diko - en:decreased activity of thiopurine s-methyltransferase

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Le Diko - en:decreased activity of thiopurine s-methyltransferase

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le dictionnaire d'associations lexicales
contributif et libre de JeuxDeMots

(id=6846444)

en:decreased activity of thiopurine s-methyltransferase

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:reticulocytosis

•

en:patient cells show increased chromosome breakage

•

en:normal concentration of parathyroid hormone

•

en:increased plasma phospholipids

•

en:hyperglycemias, postprandial

•

•

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

•

en:decreased plasma total cholesterol

•

•

en:axonemes show normal structure

•

en:abnormal liver enzymes (rare)

•

en:serum iron raised

•

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

•

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

•

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

•

en:decreased urinary calcium and phosphate excretion

•

en:decreased expression of glycosylphosphatidylinositol-linked proteins (e.g., cd59 107271 and cd24 600274) on hematopoietic cells

•

en:agammaglobulinemia

•

en:absent platelet agglutination in presence of ristocetin

•

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

•

en:serum and csf lactate may be increased

•

en:schirmer test shows alacrima

•

en:organic aciduria

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:increased serum gamma-ggt (231950)

•

en:increased creatine kinase (ck)

•

en:iiga and igg antigliadin antibodies (aga)

•

en:hereditary angioedema

•

en:glycogen storage disease type vii

•

en:elevated progesterone

•

en:elevated il6

•

en:elevated erythrocyte adenosine deaminase (eada)

•

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

•

en:no chromosome breakage

•

en:normal or increased serum phytanic acid

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

en:hypernatriuria

•

en:homocystinuria (in some patients)

•

en:glycogen storage disease type vi

•

en:decreased whole blood serotonin

•

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

•

en:normal exocrine pancreatic function

•

en:normal eosinophil peroxidase activity

•

en:isovaleric acidemia

•

en:increased urinary thymine

•

en:increased urinary 2-oxoglutaric acid

•

en:increased ige level

•

en:increased gamma-interferon

•

en:increased csf and plasma gaba

•

en:fibroblasts are small and rounded with prominent nucleoli

•

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

•

en:decreased beta-oxidation of pristanic acid

•

en:abnormal myelination in sural nerve biopsies

•

en:'rectilinear profiles' ultrastructurally in cells

•

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

•

en:microscopic hematuria

•

en:low or absent prolactin (pl)

•

en:increased renal tubular phosphate reabsorption

•

en:hyperbilirubinemia in those with liver failure

•

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

•

en:fibroblasts attach poorly

•

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

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:cystathioninemia

•

en:chronic hypercapnia

•

en:anti-ds dna antibody

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

en:positive urinary bratton-marshall test

•

en:phytanic acid accumulation

•

en:phosphaturia may disappear after a long period of time

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:high sweat sodium and chloride

•

en:decreased t cells

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

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

•

en:thyroid dyshormonogenesis 4

•

en:reticulocyte count increased

•

en:premature chromosome condensation

•

en:normal total urinary coproporphyrin

•

en:normal serum cobalamin

•

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

•

en:increased plasma phytanic acid

•

en:hyponatremia in infancy

•

en:hypomethioninemia

•

en:hyperchloremia (mean 111 mm)

•

en:hyperammonemia after protein intake

•

en:hepatic ornithine transcarbamylase deficiency

•

en:decreased serum iga

•

en:decreased beta-thromboglobulin

•

en:3-methylglutaric aciduria (3-mga)

•

en:transferrin saturation increased

•

•

en:normal serum parathyroid hormone (pth)

•

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

•

en:increased uric acid with exercise

•

en:increased levels of carcinoembryonic antigen

•

en:hla-dqw6 association (dqb1*0602)

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:decreased csf homovanillic acid (hva)

•

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

•

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

•

en:submucosal macrophages filled with sphingolipids

•

en:serum testosterone decreased

•

en:relatively low urinary pge-m levels

•

en:normal serum bile acids

•

en:myoglobinuria (reported in 1 patient)

•

en:low urinary orotic acid

•

en:low alkaline phosphatase

•

en:low-to-normal csf lactate

•

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

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:elevated pth (parathyroid hormone)

•

en:elevated androstenedione

•

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

•

en:abnormal igfr1 function

•

en:plasma ammonia not elevated

•

en:no c8 antigen detected

•

en:increased transferrin saturation (>60%)

•

en:fasting hypoglycemia (early in disease course)

•

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

•

en:disorganized growth plate cartilage

•

en:decreased tetrasialotransferrin levels

•

en:decreased mitochondrial complex iii activity in muscle

•

en:decreased dna excision repair

•

en:cytosolic phosphoenolpyruvate carboxykinase deficiency

•

en:sweat test normal

•

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

•

en:no metabolic abnormalities

•

en:median mean platelet volume (mpv) 20fl

•

en:increased serum osteocalcin

•

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

•

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

•

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

•

en:elevated 8-dehydrocholesterol

•

en:decreased serum vitamin a

•

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

•

en:decreased methylmalonyl-coa mutase activity

•

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

•

en:abnormal liver enzymes, episodic

•

en:very low igg

•

en:microdeletion 22q11.2

•

en:low to low-normal magnesium

•

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

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased plasma progastrin

•

en:glutaric acidemia type 1

•

en:elevated leukotriene e(4)

•

en:decreased or absent histidase activity

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

en:serum chloride level decreased (finding)

•

en:secondary decrease of plasma free carnitine

•

en:normal sweat chloride (3 of 3 patients)

•

en:may have increased serum parathyroid hormone (pth)

•

en:loss of ciliary beat coordination

•

en:hypocalcemia, transient

•

en:elevated sweat chloride

•

en:elevated lathosterol

•

en:elevated erythrocyte adenosine deaminase activity

•

en:decreased serum iron (in some patients)

•

en:chromosomal rearrangement

•

en:rheumatoid factor negative

•

en:reduced unsaturated serum cobalamin binding capacity

•

en:normal to increased plasma glycine

•

en:normal serum phytanic and pristanic acid

•

en:normal calcium (female)

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

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

•

en:dermatan sulfate excretion in urine

•

en:decreased uros activity (1 patient)

•

en:decreased or increased serum testosterone

•

en:decreased or absent dihydropteridine reductase activity

•

en:argininosuccinic aciduria

•

en:abnormal oral glucose tolerance

•

en:normal serum plasmalogen

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

en:increased long-chain acylcarnitine

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:hydroxyprolinuria

•

en:elevated urinary ornithine, lysine, arginine

•

en:elevated serum lactate

•

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

•

en:decreased factor xi

•

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

•

en:abnormal urinary oligosaccharides

•

en:xanthine nephrolithiasis

•

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

•

en:variably increased serum creatine kinase

•

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

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:undetectable serum l-transferrin (homozygous patient)

•

en:type 1 collagen overmodification

•

en:translocation of chromosomes 9 and 13

•

en:transient neonatal hypocalcemia (2p21del)

•

en:slightly increased serum alkaline phosphatase may occur

•

en:severely decreased palmitate oxidation

•

en:serum thyroxine may be decreased or normal

•

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

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

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

•

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

•

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

•

en:platelets have decreased number of alpha-granules, large vacuoles, normal number of dense bodies on electron microscopy

•

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

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:no evidence of perinatal infection

•

en:no evidence of common prenatal infections

•

en:normal urinary cyclic amp response to pth administration

•

en:normal to mildly increased mucopolysacchariduria

•

en:normal sweat electrolytes

•

en:normal or mildly reduced sphingomyelinase activity

•

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

•

en:normal free urinary cortisol

•

en:normal baseline cortisol

•

en:normal apoa-ii levels in homozygotes

•

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

•

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

•

en:moderately decreased to normal phk activity in skeletal muscle

•

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

•

en:mild to moderate hyperammonemia

•

en:mildly elevated acth

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:markedly increased serum creatine kinase

•

en:lysine-ketoglutarate reductase deficiency

•

en:low to very low hdl cholesterol

•

en:low or normal serum erythropoietin

•

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

•

en:iodide organification defect

•

en:intracellular granular material on ultrastructural analysis

•

en:increased urinary glycerol

•

en:increased urinary excretion of camp

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

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

•

en:increased urinary dicarboxylic acid, transient

•

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

•

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

•

en:increased urinary, plasma, and csf dihydrothymine

•

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

•

en:increased serum s-adenosylhomocysteine

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:increased serum lipoproteins

•

en:increased serum lactate in acute stage

•

en:increased serum creatine kinase in acute stage

•

en:increased serum creatine kinase (1 family)

•

en:increased plasma proinsulin

•

en:increased plasma lactate

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:increased interferon-alpha signal

•

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

•

en:increased csf interferon

•

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

•

en:increased bone serum acid phosphatase

•

en:increased blood alanine

•

en:incomplete n-glycosylation of cellular proteins

•

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

•

en:impaired mitochondrial translation

•

en:hyperprolinemia (10-15 times normal)

•

en:homocitrullinuria

•

en:high nonceruloplasmin-bound serum copper

•

en:high m-component

•

en:heteroplasmic partial duplication of mtdna

•

en:hepatic lipase deficiency (disorder)

•

en:hepatic gamma-cystathionase deficiency

•

en:hemoglobin f increased

•

en:hemizygous deletion at 7q11.23

•

en:hb h erythrocyte inclusions

•

en:granular osmiophilic deposits (grod) in cells

•

en:glutathione deficiency

•

en:glucose-6-phosphate deficiency

•

en:generalized aminoaciduria

•

en:galactosuria

•

en:folic acid deficiency

•

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

•

en:fibrinogen decreased

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:elevated serum acid phosphatase

•

en:elevated prothrombin time

•

en:elevated plasma citrulline (citrullinemia)

•

en:deficiency or absence of p22-phox protein

•

en:deficiency or absence of cytochrome b(-245)

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:decreased serum haptoglobin (in some patients)

•

en:decreased plasma arginine

•

en:decreased phgdh activity (fibroblasts)

•

en:decreased or absent gch1 activity

•

en:decreased long-chain fatty acid oxidation

•

en:decreased galactokinase activity

•

en:decreased fibroblast iduronate sulfatase

•

en:decreased eno3 activity

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:decreased c3 activity

•

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

•

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

•

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

•

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

•

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

•

en:chondroitin 6-sulfate excretion in urine

•

en:cholesterol normal

•

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

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:antiphospholipid antibody

•

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

•

en:aminoaciduria (1 patient)

•

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

•

en:absence of hepatic udp-glucuronyl-transferase

•

en:abnormal secretin test

•

en:abnormal liver enzymes, intermittent

•

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

•

en:variegated translocation mosaicism in cultured fibroblasts

•

en:variable defects of inner dynein arms

•

en:urine osmolarity decreased

•

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

•

en:urinary excretion of sialylated oligosaccharides

•

en:tyrosine loss

•

en:tsh decreased

•

en:transient neonatal hypoglycemia (2p21del)

•

en:smooth muscle antibodies positive

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:skewed x-inactivation in females

•

en:severe hypernatremia in neonatal period

•

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

•

en:serum growth hormone increased

•

en:serum creatine kinase may be normal or elevated

•

en:serum corticosterone increased

•

en:routine liver function tests normal

•

en:reduced total and free carnitine in plasma and tissue

•

en:pyruvic acidemia

•

en:propionic acidemia

•

en:prolonged bleeding time

•

en:poor mitogenic response to growth factors

•

en:plasmalogen deficiency

•

en:phospholipid antibody positive

•

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

•

en:oestradiol decreased

•

en:normal or decreased serum potassium

•

en:normal liver histology

•

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

•

•

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

•

en:mildly decreased serum creatinine

•

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

•

en:marked hypoalphalipoproteinemia (in some patients)

•

en:low or normal serum calcium

•

en:low csf creatinine

•

en:lipopigment in extraneuronal cells

•

en:isovalerylglycinuria

•

en:irregularly shaped sperm heads

•

en:iodine depletion

•

en:increased urinary oligosaccharides

•

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

•

en:increased urinary dihydropyrimidines

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased urinary cortisol/cortisone ratio

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

en:increased urinary 2-methylbutyryl glycine

•

en:increased urinary 2-methylacetoacetic acid

•

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

•

en:increased urinary 2-alpha-ketoglutaric acid

•

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

•

en:increased serum transferrin

•

en:increased serum thrombopoietin may occur

•

en:increased serum levels of free plasma thyroid hormones

•

en:increased serum lactate hydrogenase

•

en:increased serum lactate

•

en:increased serum c26-bile-acid intermediates

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:increased igg level

•

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

•

en:increased csf 3-methoxytyrosine (3-mt)

•

en:increased biopterin in urine and csf

•

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

•

en:impaired n-glycosylation

•

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

•

•

en:hypocalcemia (male)

•

en:hypobetalipoproteinemias

•

en:hyperoxalaemia

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:hyperglycinemia

•

en:hyperglycemia

•

en:hyperbilirubinemia

•

en:hepatic glycine cleavage defect

•

en:hemizygous deletion at 4p16.3

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:galactosuria without galactosemia

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

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

•

en:farber lipogranulomatosis

•

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:elevated urine ceramide levels

•

en:elevated urinary 3-methylglutaconate

•

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

•

en:elevated plasma cholestanol

•

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

•

en:elevated mchc

•

en:elevated fasting glucose

•

en:elevated erythrocyte adenosine deaminase

•

en:elevated bilirubin (bilirubinemia)

•

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

•

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

•

en:diminished lymphocyte response to phytohemaglutinin

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

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

•

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

•

en:decreased urocanic acid in blood, urine, and skin cells

•

en:decreased thrombospondin

•

en:decreased tetrasialo-transferrin

•

en:decreased testosterone level

•

en:decreased telomerase activity

•

en:decreased scad activity

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:decreased nasal nitric oxide

•

en:decreased mucosal alkaline phosphatase

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:decreased glomerular filtration rate (gfr)

•

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

•

en:decreased csf pyridoxal

•

en:decreased csf ferritin despite normal serum ferritin levels

•

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

•

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

•

en:decreased activity of phosphoglycerate kinase 1

•

en:decreased acetyl-coa carboxylase activity

•

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

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:creatine kinase normal between episodes

•

en:cilia show inner and outer dynein arm defects

•

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

•

en:cell studies show increased dna breakage

•

en:bilirubin conjugated increased

•

en:ballooned neurons

•

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

•

en:anti-iga antibodies commonly present

•

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

•

en:absent or abnormal thyroglobulin

•

en:absence of outer dynein arms

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

en:abnormal urinary compounds

•

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

•

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

•

en:abnormal nuclear morphology

•

en:3-methylglutaconic aciduria (3-mgc)

•

en:'compensated hypothyroidism' with increased tsh and normal t4

•

en:urine odor, maple syrup

•

en:urine cortisol, increased

•

en:thrombocytosis (in some patients)

•

en:subsarcolemmal pleomorphic mitochondria on em

•

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

•

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

•

en:severely decreased antigen levels of vwf and factor viii

•

en:serum gastrin increased

•

en:reduced igg levels, particularly igg2 subclass

•

en:reduced erythrocyte glucose/hexose transport

•

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

•

en:reduced beating amplitudes in cilia

•

en:raised c-reactive protein

•

en:prothrombin time increased

•

en:prolonged prothrombin time (pt)

•

en:positive antinuclear antibody test

•

en:polymorphonuclear leukocytosis, episodic

•

en:phosphaturia

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

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

•

en:normal male karyotype (46,xy)

•

en:mitochondrial complex i deficiency in muscle

•

en:mildly decreased phosphaturic response to pth administration has been reported in some cases

•

en:methylmalonic aciduria

•

en:methemoglobin concentration 12 to 19%

•

en:low serum uric acid

•

en:low plasma tryptophan (inflammatory type b)

•

en:low plasma arginine

•

en:low level of c4 and c2

•

en:low csf creatine

•

en:low cholesterol esterification rates

•

en:little to absent aspartylglucosaminuria activity

•

en:ketoacidosis

•

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

•

en:interstitial or terminal deletion of 18q

•

en:inner and outer dynein arm defects, variable

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:increased urine oligosaccharides

•

en:increased urinary urate

•

en:increased urinary neopterin

•

en:increased urinary excretion of cystine

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:increased urinary 2-methylbutyrylglycine

•

en:increased susceptibility to ebv infection

•

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

•

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

•

en:increased serum serotonin in 25%

•

en:increased serum lactate (mild)

•

en:increased serum lactate, particularly after exercise

•

en:increased serum deoxyuridine

•

en:increased serum bilirubin (in some patients)

•

en:increased serum bile acids

•

en:increased serum acylcarnitine during febrile crisis

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:increased prevalence among the native american lumbee indians

•

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

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:increased il1b increased soluble il2r

•

en:increased excretion of urobilinogen

•

en:increased disialotransferrin and asialotransferrin levels

•

en:increased csf protein

•

en:increased 18-ohb to aldosterone ratio

•

en:immunoreactive pc protein

•

en:hyposialylation of o-linked serum glycans

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:hypogammaglobulinemia, profound

•

en:hypocholesterolemia

•

en:hypermagnesiuria

•

en:hyperlipoproteinemia type i

•

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

•

en:high sister chromatid exchange (sce) rate

•

en:hereditary fructose intolerance

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

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

•

en:frequent deletions of chromosome 9 in melanoma

•

en:foam cells in visceral organs and cns

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

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

•

en:elevated urinary hyaluronic acid levels

•

en:elevated serum levels of 2-prime deoxyadenosine

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:elevated plasma levels of lp(a)

•

en:elevated long chain fatty acids

•

en:elevated fibroblast free sialic acid

•

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

•

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

•

en:elevated alkaline phosphatase

•

en:dyslipidemia

•

en:diffuse deposition of calcium oxalate in various tissues

•

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

•

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

•

en:decreased von willebrand factor

•

en:decreased s-ado:saicar ratio

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

en:decreased palmitate oxidation

•

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

•

en:decreased insulin receptor binding

•

en:decreased fibrinogen (in some patients)

•

en:decreased circulating cortisol level

•

en:decreased activity of mitochondrial complex i

•

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

•

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

•

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

•

en:cystathionine beta-synthase deficiency disease

•

en:cutaneous anergy

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:complex organic aciduria

•

en:chronic hypoxemia

•

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

•

en:cellular arrest at g2 of the cell cycle

•

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

•

en:aspartylglycosaminuria

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

en:androgens increased

•

•

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

•

en:abnormal karyotype in 3 patients involving distal 6p

•

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

•

en:abnormal isoelectric focusing of serum transferrin

•

en:abnormal eeg in 25% hospitalized patients

•

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

•

en:3-methylglutaconic aciduria

•

en:urocanase deficiency

•

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

•

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

•

en:type iii collagen defect

•

en:thymic hormone decreased

•

en:tay-sachs disease

•

en:sterol 27-hydroxylase deficiency

•

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

•

en:serum triglycerides increased

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:pseudohypertriglyceridemia in adult form

•

en:prominent leukocytosis (30,000/ml)

•

en:positive urine dnph screening test

•

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

•

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

•

en:no increase of muscle lactate with ischemic exercise testing

•

en:no evidence of intrauterine infection in mother or newborn

•

en:normal transferrin saturation

•

en:normal to prolonged bleeding time

•

en:normal serum erythropoietin (epo, 133170)

•

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

•

en:normal or mildly decreased arylsulfatase a activity

•

en:normal constitutional karyotype

•

en:normal 46,xy karyotype

•

en:nonketotic hypoglycemia

•

en:multi-tailed spermatozoa

•

en:mildly elevated hepatic enzymes

•

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

•

en:mildly elevated blood ammonia

•

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

•

en:methylsuccinic aciduria

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

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

•

en:low total serum protein

•

en:low copper and ceruloplasmin

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:increased very-long chain fatty acids

•

en:increased urinary uracil

•

en:increased urinary orotic acid (in some patients)

•

en:increased urinary n-acetylated amino acids

•

en:increased urinary homovanillic acid (hva)

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:increased urinary excretion of coproporphyrin i

•

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

•

en:increased urinary citric acid cycle intermediates

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased serum total cholesterol

•

en:increased serum prostaglandin e2

•

en:increased serum ferritin

•

en:increased serum c-reactive protein, episodic

•

en:increased serum and csf lactate

•

en:increased plasma proglucagon

•

en:increased free erythrocyte protoporphyrin

•

en:increased erythropoietin

•

en:increased alpha-fetoprotein (1 patient)

•

en:impairment of urinary concentration

•

en:immediate (type i) skin test reactivity

•

en:i-cell disease

•

en:hypoglycemia, fasting

•

en:hypocitraturia

•

en:hypermagnesemia

•

en:hypercalciuria

•

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

•

en:high serum guanosine levels

•

en:high ft3/ft4 ratio

•

en:hepatic argininosuccinase deficiency

•

en:hematuria, macroscopic and microscopic

•

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

•

en:generalized amyloid deposition

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:folate-dependent fragile site at xq28

•

en:foam cells in bone marrow and renal glomeruli

•

en:fluorescence of red blood cells by uv microscopy

•

en:enzyme replacement therapy has not been effective

•

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

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:elevated serum parathyroid hormone (pth) level

•

en:elevated serum iron

•

en:elevated serum bile acids

•

en:elevated plasma follicle stimulating hormone (fsh)

•

en:elevated plasma ammonia

•

en:elevated liver function tests

•

en:elevated gamma-glutamyltransferase (ggt)

•

en:elevated 3-hydroxypropionic acid

•

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

•

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

•

en:deficient efflux of intracellular cholesterol

•

en:deficiency or absence of p91-phox (300481) protein

•

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

•

en:decreased ubiquinone-10

•

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

•

en:decreased serum complement factor h

•

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

•

en:decreased plasma triglycerides

•

en:decreased plasma apolipoprotein c-ii

•

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

•

en:decreased or absent glycogen branching enzyme activity

•

en:decreased natural killer cells

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

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

•

en:decreased csf serine

•

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

•

en:decreased activity of galactocerebrosidase

•

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

•

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

•

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

•

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

•

en:cholesterol low

•

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

•

en:bile contains cholesterol crystals

•

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

•

en:azoospermia/oligospermia (present at diagnosis)

•

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

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

en:antiribonuclear protein positive

•

en:absent-decreased prolyl 3-hydroxylation at collagen i alpha-1 pro986

•

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

•

en:5-hiaa csf may be normal or decreased

•

en:thiopurine s methyltranferase deficiency

•

en:vitamin k deficiency

•

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

•

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

•

en:telomere shortening

•

en:shortened telomeres (in 1 of 2 patients)

•

en:shortened telomeres (1 patient)

•

en:serum transferrin glycosylation is normal

•

en:serum mitochondrial autoantibodies

•

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

•

en:renin decreased

•

en:proteinuria in those with cystic kidneys

•

en:postprandial hyperglycemia (early in disease course)

•

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

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

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

•

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

•

en:normal serum lipoprotein levels

•

en:normal serum and mucosal iga

•

en:normal plasma total homocysteine

•

en:normal lysl hydroxylase activity

•

en:normal axonal flare response after intradermal histamine injection

•

en:normal activity of von willebrand factor-cleaving protease

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

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

•

en:myoglobinuria with extreme exertion

•

en:multiple autoantibodies

•

en:monomeric igm

•

en:mildly elevated hdl in heterozygotes

•

en:microsomal hmg-coa reductase decreased

•

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

•

en:lysyl hydroxylase deficiency

•

en:low urinary excretion of neutral 17-ketosteroids

•

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

•

en:low serum calcium

•

en:low free carnitine

•

en:low density lipoprotein increased

•

en:liver function tests normal

•

en:leukocytosis

•

en:indirect hyperbilirubinemia

•

en:incresased urinary pyruvate

•

en:increased urinary oxylate

•

en:increased urinary isobutyryl glycine

•

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

•

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

•

en:increased urinary 3-methylglutaconic acid

•

en:increased tissue levels of triglycerides

•

en:increased sodium-potassium pump activity

•

en:increased serum triglycerides (in some patients)

•

en:increased serum ferritin (in some patients)

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased serum alanine

•

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

•

en:increased serum, urinary, and csf lysine

•

en:increased lactate in spinal fluid

•

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

•

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

•

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

•

en:hypoalphalipoproteinemia

•

en:hypoalbuminemia

•

en:hyperuricosuria

•

en:hyperthreoninemia

•

en:hypernatremia

•

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

•

en:hyperglycolic aciduria

•

en:hyperglutaminemia

•

en:hyperchloremia (mean 109 mm)

•

en:hypercalciuria (in childhood)

•

en:high serum inosine levels

•

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

•

en:glucosidase i deficiency in liver and fibroblasts

•

en:globulin gamma serum plasma increased result

•

en:galactosylation defects

•

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

•

en:female carriers show markedly skewed x inactivation

•

en:elevated urinary pge(2) levels

•

en:elevated serum parathyroid hormone (pth)

•

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

•

en:elevated plasma alloisoleucine

•

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

•

en:elevated gastrin concentration

•

en:elevated 8(9)-cholestenol

•

en:elevated 3-methylcitric acid

•

en:elevated 2-ketoglutarate (urine)

•

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

•

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

•

en:duplication or deletion at 11p15.5

•

en:deficiency of laminin in basement membranes

•

en:decreased xanthine dehydrogenase activity

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:decreased serum igm

•

en:decreased secretion of igf1 in response to gh administration

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased glutamine in bodily fluids

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:decreased ciliary motility

•

en:decreased blood levels of cationic amino acids

•

en:decreased activity of ppt1

•

en:decreased activity of dihydrofolate reductase

•

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

•

en:decreased activity of 2-oxoacid dehydrogenases

•

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

•

en:decreased acid beta galactosidase protein and activity

•

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

•

en:continuous urinary iodine loss

•

en:ceruloplasmin decreased

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

en:bilirubin may or may not be increased

•

en:anti-factor viii positive

•

en:alpha 1 foetoprotein amniotic fluid increased

•

en:alanine aminotransferase increased

•

en:absence of cpt ii protein

•

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

•

en:abnormal cartilage collagen on em

•

en:abacterial leukocyturia

•

en:5-oxoprolinase deficiency

•

en:4-hydroxyphenylpyruvic aciduria

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:vitamin d deficiency

•

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

•

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

•

en:thrombocytopenia

•

en:structural abnormalities seen on chromosome analysis

•

en:shortened metaphase

•

en:serum folate normal

•

en:serum ammonia increased

•

en:serum alkaline phosphatase normal or mildly increased

•

en:resistance to 1,25-dihydroxyvitamin d3

•

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

•

en:reduced ferrochelatase activity

•

en:reduced bending capacity of cilia

•

en:prolonged partial thromboplastin time

•

en:prolonged activated partial prothrombin time (appt)

•

en:no elevation of free fatty acids

•

en:normal urinary orotic acid

•

en:normal urinary 17-ketosteroids

•

en:normal to slightly high alkaline phosphatase

•

en:normal to increased plasma threonine

•

en:normal sedimentation rate

•

en:normal or mildly increased serum creatine kinase

•

en:normal lysyl oxidase activity

•

en:normal erythrocyte gs activity

•

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

•

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

•

en:mitochondrial deletions

•

en:metabolic acidosis

•

en:median mean platelet volume (mpv) 12.5fl

•

en:markedly reduced iga levels

•

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

•

en:low serum magnesium

•

en:lower total cholesterol

•

en:leukotriene c4 synthetase deficiency

•

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

•

en:lactate dehydrogenase increased

•

en:increased urinary 3-oh-butyric acid

•

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

•

en:increased uric acid level

•

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

•

en:increased serum creatine kinase in patients with muscle involvement

•

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

•

en:increased serum alanine (1 patient)

•

en:increased serum acylcarnitines

•

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

•

en:increased pyruvate in serum and csf

•

en:increased pristanic acid

•

en:increased plasma pristanic acid

•

en:increased phytanic acid in body tissues and fluids

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:increased il6, episodic

•

en:increased csf taurine

•

en:increased csf protein during acute illness

•

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

•

en:increased chromosomal breakage

•

en:immunoglobulin a decreased

•

en:immotile or weakly motile cilia

•

en:hypoglycosylation of plasma glycoproteins

•

en:hyperthreoninuria

•

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

•

en:homocystinemia

•

en:high urinary orotic acid

•

en:high newborn serum levels of immunoreactive trypsinogen

•

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

•

en:hereditary factor x deficiency

•

en:hemoglobin decreased

•

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

•

en:eosinophilia, mild

•

en:elevated serum transferrin saturation

•

en:elevated propionate

•

en:elevated pregnenolone

•

en:elevated plasma desmosterol

•

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

•

en:elevated hcg (choriocarcinoma)

•

en:elevated afp (endodermal sinus tumor)

•

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

•

en:echocardiogram abnormal

•

en:dyskinetic ciliary motility

•

en:deficiency of creatine phosphate in brain

•

en:defective (ca2+) mobilization in t cells

•

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

•

en:decreased triiodothyronine level

•

en:decreased serum leptin

•

en:decreased serum haptoglobin

•

en:decreased serum cholesterol (in some)

•

en:decreased serum bun

•

en:decreased or normal serum factor i

•

en:decreased or absent serum citrulline

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

en:decreased levels of cpt2 protein

•

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

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:decreased dermal hydroxylysine content

•

en:decreased csf hypocretin

•

en:decreased adenosylcobalamin

•

en:decreased activity of the pdh phosphatase

•

en:decreased activity of complement factor d

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

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

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:coombs positive hemolytic anemia

•

en:citrullinemia

•

en:chylomicronemia, refractory fasting

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

en:antithrombin iii deficiency

•

en:alpha fetoprotein increased

•

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

•

en:abnormal serum transferrin pattern (in some patients)

•

en:abnormal fecal fat

•

en:aberrant gamma-interferon-mediated inflammation

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:4-hydroxyphenyllactic aciduria

•

en:2-oxoadipic aciduria

•

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

•

en:variable respiratory chain enzyme deficiency

•

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

•

•

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

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

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

•

en:t-cell deficit

•

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

•

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

•

en:spongy degeneration of brain on histology

•

en:some fragmented or disrupted golgi

•

en:some cilia show abnormal beating patterns or immotility

•

en:serum testosterone level normal

•

en:serum cortisol decreased

•

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

•

en:reduced platelet aggregation response to collagen and thrombin

•

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

•

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

•

•

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

•

en:normal lysyl hydroxylase activity

•

en:normal cerebrospinal fluid

•

•

en:myelin basic protein measurement, spinal fluid

•

en:mucopolysaccharidosis type iiid

•

en:molybdenum cofactor deficiency

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:mild elevation of triglycerides

•

en:mildly increased serum lactate

•

en:median mean platelet volume 13fl

•

en:mean platelet volume (mpv) 12.6fl

•

en:low serum igg and iga

•

en:low serum alpha-fetoprotein (recessive)

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:low-molecular-weight proteinuria

•

•

en:increased urine vanillactic acid (vla)

•

en:increased urinary sulfatide excretion

•

en:increased urinary succinic acid

•

en:increased urinary s-sulfocysteine

•

en:increased urinary excretion of l-xylulose

•

en:increased urinary 2-ketoglutarate (variable)

•

en:increased thyroid-stimulating hormone (tsh)

•

en:increased serum lactate during metabolic crisis

•

en:increased serum beta-hexosaminidase

•

en:increased serum and urinary 2-oxoglutarate

•

en:increased serum alkaline phosphatase (in some patients)

•

en:increased prv-1 (162860) mrna

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

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

•

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

•

en:increased cellular sensitivity to uv light

•

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

•

en:impaired platelet aggregation

•

•

en:hypoprebetalipoproteinemia

•

en:hypoglycemia

•

en:hypofibrinogenemia

•

en:hyperprolinemia type 1

•

en:hyperornithinemia

•

en:hyperlysinemia

•

en:hyperkalemia

•

en:hyperchloridura

•

en:hypercalcemia

•

en:hyperarginemia

•

en:hair bulb tyrosinase present

•

•

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

•

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

•

en:elevated serum uric acid concentrations

•

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

•

en:elevated pyruvate (in most patients)

•

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

•

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

•

en:elevated ast and ldh, especially infantile-onset

•

en:electrocardiogram abnormal

•

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

•

en:di- and trihydroxycholestanoic acid accumulation

•

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

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846444 • caches: c1=8 c2=1003 c3=1

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