Le Diko - en:decreased urinary calcium and phosphate excretion

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Le Diko - en:decreased urinary calcium and phosphate excretion

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le dictionnaire d'associations lexicales
contributif et libre de JeuxDeMots

en:decreased urinary calcium and phosphate excretion

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

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

•

en:serum c-peptide and glucagon levels measurable

•

en:serum calcium elevated

•

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

•

en:absent tyrosinase activity

•

en:decreased serum levels of maoa products

•

en:excessive urinary 5-oxo-l-proline

•

en:homocystinuria (in some patients)

•

en:hypomethioninemia

•

en:increased il6, episodic

•

en:low serum ceruloplasmin

•

en:increased serum direct bilirubin

•

en:accumulation of neutral lipids (triglycerides) in leukocytes, muscle cells, fibroblasts, and cardiomyocytes

•

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

•

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

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

en:elevated urinary 3-methylglutarate

•

en:increased serum lactate in acute stage

•

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

•

en:mildly elevated hdl in heterozygotes

•

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

•

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

•

en:intermediate level of cellular sensitivity to uv light

•

en:abnormal transferrin isoelectric focusing (ief)

•

en:aminoaciduria, mild (in some patients)

•

en:hemizygous deletion at 4p16.3

•

en:hyperammonemia

•

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

•

en:increased plasma phospholipids

•

en:nonketotic hypoglycemia

•

en:normal blood lactate

•

en:serum prolactin decreased

•

en:decreased fumarate hydratase activity

•

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

•

en:increased urinary hydroxyisovaleric acid

•

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

•

en:abnormal lipid profile

•

en:defect in mitochondrial and peroxisomal fission

•

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

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

en:decreased serum b12 levels

•

en:myoglobinuria (reported in 1 patient)

•

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

•

en:hydroxyprolinuria

•

en:d-2-hydroxyglutaric aciduria

•

en:elevated serum levels of 2-prime deoxyadenosine

•

en:elevated ast and ldh, especially infantile-onset

•

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

•

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

•

en:normal-elevated plasma testosterone (male range)

•

en:gamma-glutamylcysteine deficiency

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:serum homocysteine normal

•

en:no lactic acidosis

•

en:intermittent 3-methylglutaconic aciduria

•

en:increased urinary malic acid

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased serum butyryl carnitine

•

en:increased levels of carcinoembryonic antigen

•

en:increased serum creatine kinase in patients with muscle involvement

•

en:normal to slightly high alkaline phosphatase

•

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

•

en:increased urinary homovanillic acid (hva)

•

en:increased triglycerides (less common)

•

en:increased serum lactate (patient a)

•

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

•

en:hyperphosphatemia, transient

•

en:elevated urinary phosphoethanolamine

•

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

•

en:deficiency or absence of p22-phox (608508) protein

•

en:chromosome 11q23.3 deletion

•

en:presence of serum anti-lu3 antibodies

•

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

•

en:increased fas ligand

•

en:propionic acidemia

•

en:vitamin b12 deficiency (uncommon)

•

•

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

•

•

en:keratan sulfate excretion in urine that decreases with age

•

en:increased plasma lactate

•

en:increased csf pyruvic acid

•

en:abnormal transaminases (1 patient)

•

en:igg, decreased

•

en:decreased testosterone level

•

en:decreased circulating aldosterone level

•

en:decreased csf glycine

•

en:hb h erythrocyte inclusions

•

en:elevated plasma estrogen

•

en:elevated total bilirubin

•

en:glucosidase i deficiency in liver and fibroblasts

•

en:decreased serum bun

•

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

•

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

•

en:hyperglycemia

•

en:hypoglycosylation of plasma glycoproteins

•

en:loss of ciliary beat coordination

•

en:complex organic aciduria

•

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

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:decreased mitochondrial nadp(h)

•

en:defect in dna repair

•

en:normal serum biotin concentration

•

en:elevated serum long-chain fatty acids

•

en:serum cholesterol low or normal

•

en:no c8 antigen detected

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:low plasma free and total carnitine

•

en:low csf creatine

•

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

•

en:hypercalcemia

•

en:normal plasma renin

•

en:cystathioninemia

•

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

•

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

•

en:hepatic argininosuccinase deficiency

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

en:increased urinary glutaric acid

•

en:increased urinary tiglylglycine

•

•

en:normal leukocyte and platelet counts

•

en:aldosterone concentration below normal

•

en:sterol 27-hydroxylase deficiency

•

en:normal serum erythropoietin (epo, 133170)

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

en:prolonged partial thromboplastin time

•

en:increased serum creatine kinase (1 family)

•

en:hypoprebetalipoproteinemia

•

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

•

en:n-glycosylation defect

•

en:elevated serum protein

•

en:elevated ammonia

•

en:chondroitin 6-sulfate excretion in urine

•

en:absence of hepatic udp-glucuronyl-transferase

•

en:triglyceride decreased

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:decreased ciliary motility

•

en:decreased hepatic gaba transaminase activity

•

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

•

en:dhea sulfotransferase below limit of detection

•

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

•

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

•

en:lactate pyruvate ratio normal

•

en:low or normal serum calcium

•

en:low plasma citrulline

•

en:metabolic acidosis

•

en:normal iga levels

•

en:absent axonal flare response to intradermal histamine injection

•

en:electrolyturia (1 patient)

•

en:elevated alkaline phosphatase (in one patient)

•

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

•

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

•

en:increased csf and plasma gaba

•

en:interstitial or terminal deletion of 18q

•

en:myelin basic protein measurement, spinal fluid

•

en:no ketonuria

•

en:rheumatoid factor positive (finding)

•

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

•

en:increased or normal serum growth hormone (gh, 139250)

•

en:increased creatinine

•

en:hypokalemia during attacks

•

en:elevated plasma follicle stimulating hormone (fsh)

•

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

•

en:decreased plasma lpl levels (in some patients)

•

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

•

en:decreased complement factor d

•

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

•

en:3-methylglutaric aciduria (3-mga)

•

en:increased plasma pristanic acid

•

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

•

en:normal red cell counts

•

en:hypokalemia during periodic paralysis (most patients)

•

en:normal serum bile acids

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:increased tissue long-chain fatty acids

•

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

•

en:hyponatremia

•

en:high sister chromatid exchange (sce) rate

•

en:galactosylation defects

•

en:decreased serum ferritin

•

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

•

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

•

en:urinary excretion of mucopolysaccharides

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

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

•

en:increased urinary orotic acid (in some patients)

•

en:increased urinary phospholipids

•

en:increased urinary sulfatides

•

en:increased urinary sulfite

•

en:low plasma hdl

•

•

en:lactic acidemia (2p21del)

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

en:low cd4+ count

•

en:low copper and ceruloplasmin

•

en:increased urinary catecholamines

•

en:increased urinary cortisol/cortisone ratio

•

en:increased serum lactate (in some patients)

•

en:increased urinary 2-alpha-ketoglutaric acid

•

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

•

en:increased uric acid level

•

en:increased serum thrombopoietin may occur

•

en:increased serum lysine (group b)

•

en:increased serum levels of free plasma thyroid hormones

•

en:low total serum protein

•

en:increased serum creatine kinase, mild

•

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

•

en:increased serum arylsulfatase a.

•

en:increased serum acylcarnitines

•

en:increased renal tubular phosphate reabsorption

•

en:increased plasma renin activity

•

en:increased plasma phytanic acid

•

en:increased plasma and urinary pipecolic acid

•

en:low plasma triglyceride level

•

en:myoglobinuria

•

en:markedly reduced iga levels

•

en:organic aciduria, mild (in some patients)

•

en:shortened telomeres (classic feature, nola3 patient)

•

en:serum triglycerides increased

•

en:secondary decrease of plasma free carnitine

•

en:reticulocyte count increased

•

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

•

en:reduced ige levels

•

en:prothrombin time low

•

en:prolonged prothrombin and partial thromboplastin times

•

en:presence of vacuoles on muscle biopsy

•

en:premature chromosome condensation

•

en:plasma catecholamines decreased

•

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

•

en:pcs involves most of all chromosomes of a metaphase

•

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

•

en:normal urinary orotic acid

•

en:median mean platelet volume (mpv) 12.5fl

•

en:normal urinary 17-ketosteroids

•

en:normal to elevated total plasma carnitine

•

en:normal sweat chloride (3 of 3 patients)

•

en:normal serum 25-hydroxyvitamin d3

•

en:normal or mildly reduced serum cobalamin

•

en:normal or decreased serum potassium

•

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

•

en:normal dermal hydroxylysine content

•

en:normal ciliary structure and function

•

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

•

en:increased il-6

•

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

•

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

•

en:microtubule disorganization in some cilia

•

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

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

en:increased 18-oxocortisol

•

en:cd4+/cd8+ ratio is reversed

•

en:decreased or absent gch1 activity

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased insulin receptor binding

•

en:decreased hdl cholesterol

•

en:decreased dna excision repair

•

en:decreased cpt1 activity

•

en:decreased copper, iron, zinc

•

en:decreased circulating cortisol level

•

en:decreased activity of the pdh phosphatase

•

en:decreased acid sphingomyelinase activity

•

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

•

en:coombs positive hemolytic anemia

•

en:cell studies show increased dna breakage

•

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

•

en:decreased or absent steroid sulfatase activity

•

en:bone marrow hypoplasia (in some patients)

•

en:antiribonuclear protein positive

•

en:aneuploidy of the x chromosome

•

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

•

en:alpha fetoprotein increased

•

en:alkaline phosphatase serum increased

•

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

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

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

•

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

•

en:abnormal dystrophin on muscle biopsy

•

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

•

en:2-oxoadipic aciduria

•

en:type iii collagen defect

•

en:decreased or absent histidase activity

•

en:decreased or normal plasma insulin

•

en:impaired n-glycosylation

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:immediate (type i) skin test reactivity

•

en:hypocitraturia

•

en:hypobetalipoproteinemias

•

en:hypermethioninemia, progressive

•

en:hypercholesterolemia

•

en:hyperbilirubinemia in those with liver failure

•

en:homocystinemia

•

en:high serum osmolality

•

en:hereditary xanthinuria

•

en:hair bulbs will pigment when incubated with tyrosine

•

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

en:fibroblasts show decreased mitochondrial complex v activity

•

en:farber lipogranulomatosis

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:decreased or normal serum factor b

•

en:elevated serum phosphorus

•

en:elevated resting serum lactate, increased with exercise

•

en:deletion (78kb to 1mb) of chromosome 8q24.3 including the scrib (607733) and puf60 (604819) genes

•

en:deficiency of fructokinase

•

en:defective glcnac-pi synthesis

•

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

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:decreased serum igm

•

en:decreased serum 25-hydroxyvitamin d

•

en:decreased plasminogen antigen

•

en:decreased plasma free carnitine

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

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

•

en:decreased palmitate oxidation

•

en:thrombocytopenia

•

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

•

•

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

•

en:microduplication of chromosome 5p13

•

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

•

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

•

en:low or low-normal serum t4

•

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

•

en:liver transaminases normal to slightly increased

•

en:lactic acidosis

•

en:lack of ciliary motility

•

•

en:iron overload (in some patients)

•

en:iron binding capacity total increased

•

en:indirect hyperbilirubinemia

•

en:increased urinary sulfatide excretion

•

en:increased urinary organic acids (in some patients)

•

en:increased urinary glycerol

•

en:mild hyperammonemia

•

en:increased urinary fumaric acid

•

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

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:increased urinary 2-ketoglutarate (variable)

•

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

•

en:increased tissue levels of triglycerides

•

en:increased susceptibility to ebv infection

•

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

•

en:increased serum unconjugated bilirubin

•

en:increased serum methionine (reported in 2 cases)

•

en:increased serum gamma-ggt (231950)

•

en:increased serum creatine kinase in acute stage

•

en:increased serum bilirubin (in some patients)

•

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

•

en:mildly elevated creatine phosphokinase

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:increased serum alanine

•

en:serum ferritin hyperglycosylation

•

en:xanthine nephrolithiasis

•

en:very low leptin level

•

en:very low density lipoprotein increased

•

en:uric acid normal

•

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

•

en:tyrosine iodination defect

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

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

•

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

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

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

•

en:severely decreased palmitate oxidation

•

en:serum transferrin glycosylation is normal

•

en:serum testosterone level normal

•

en:serum cortisol decreased

•

en:normal collagen type i studies

•

en:serum bilirubin increased

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

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

•

en:phytanic acid accumulation

•

en:other cytogenic abnormalities have been associated with dgs phenotype including monosomy 10p13, 11p13, and 4q21

•

en:no hyperuricemia

•

en:no chromosomal breakage

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:normal plasma total homocysteine

•

en:normal plasma phytanic acid

•

en:normal or increased levels of serum arginine vasopressin (antidiuretic hormone, 192340)

•

en:normal male karyotype (46,xy)

•

en:normal free urinary cortisol

•

en:normal exocrine pancreatic function

•

en:increased serum ammonia (group b)

•

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

•

en:increased plasma vldl, ldl

•

en:alanine aminotransferase increased

•

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

•

en:decreased csf hypocretin

•

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

•

en:decreased c3 antigen

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:decreased activity of pyruvate dehydrogenase complex

•

en:decreased activity of dihydrofolate reductase

•

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

•

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

•

en:cytosolic phosphoenolpyruvate carboxykinase deficiency

•

en:ceruloplasmin decreased

•

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

•

en:borderline elevated low-density lipoprotein

•

en:acylglycinuria

•

en:decreased phk activity in liver

•

•

en:abnormal secretin test

•

en:abnormal phospholipid profile

•

en:abnormal oral glucose tolerance

•

en:abnormal myelination in sural nerve biopsies

•

en:abnormal liver enzymes (1 patient)

•

en:abacterial leukocyturia

•

en:5-oxoprolinase deficiency

•

en:4-hydroxyphenylactic aciduria

•

en:3-methylglutaric aciduria

•

en:'rectilinear profiles' ultrastructurally in cells

•

en:variegated translocation mosaicism in cultured fibroblasts

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:urine osmolarity decreased

•

en:decreased neopterin and biopterin in urine

•

en:vitamin d deficiency

•

en:decreased plasma and urinary ornithine

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

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

•

en:hypertryptophanemia

•

en:igg deficiency

•

en:hypertriglyceridemia

•

en:hyperprolinemia type 1

•

en:hyperphosphatemia

•

en:hypernatremia

•

en:hyperglycolic aciduria

•

en:hyperglycemias, postprandial

•

en:hypercholesterolemia (disorder)

•

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

•

en:homocystinuria

•

en:glycogen storage disease type v

•

en:fumarase deficiency

•

en:hypercalciuria (in childhood)

•

en:factor vii deficiency

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

en:decreased serum androgens

•

en:elevated serum uric acid concentrations

•

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

•

en:decreased triiodothyronine level

•

en:defective dna repair after ultraviolet radiation damage

•

en:defects in mitochondrial oxidative phosphorylation

•

en:elevated 1,25(oh)2 d3

•

en:elevated 8(9)-cholestenol

•

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

•

en:elevated biopterin in csf

•

en:elevated csf/plasma glycine ratio

•

en:elevated leukotriene e(4)

•

en:decreased plasma triglycerides

•

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

•

en:nadh-cytochrome b(5) reductase deficiency

•

en:normal arterial oxygen saturation

•

en:normal constitutional karyotype

•

en:no chromosome breakage

•

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

•

en:normal lysyl oxidase activity

•

en:normal or increased serum creatine kinase

•

en:normal parathyroid hormone (female)

•

en:normal plasma and tissue carnitine

•

en:normal to increased plasma threonine

•

en:multi-tailed spermatozoa

•

en:increased urinary prostaglandin e2

•

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

•

en:mildly prolonged bleeding time 10-12 minutes

•

en:low serum levels of branched-chain amino acids

•

en:low serum alkaline phosphatase in heterozygotes

•

en:low leukocyte alkaline phosphatase activity

•

en:liver phosphorylase kinase (phk) deficiency

•

en:liver enzymes abnormal

•

en:leukotriene c4 synthetase deficiency

•

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

•

en:intermittent dicarbonic aciduria

•

en:increased very-long chain fatty acids

•

en:increased urine porphyrins at times

•

en:increased urinary uracil

•

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

•

en:no increased sensitivity to oxidative species

•

en:transaminitis

•

en:parathyroid hormone level increased

•

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

•

en:cd4+/cd8+ ratio often reversed

•

en:increased urinary 2-methylacetoacetic acid

•

en:blood pyruvic acid increased

•

en:antiphospholipid antibody

•

en:anti-factor viii positive

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

en:absent or severely reduced levels of serum immunoglobulins

•

en:absent igg2 subclass

•

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

•

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

•

en:very low igm

•

en:urocanase deficiency

•

en:tsh decreased

•

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

•

en:translocation between 18q21 and 14q32

•

en:submucosal macrophages filled with sphingolipids

•

en:serum testosterone decreased

•

en:serum corticosterone increased

•

en:serum acid phosphatase normal

•

en:routine liver function tests normal

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:prolonged bleeding time

•

en:polycythemia

•

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

•

en:phytanic acid increased

•

en:peroxisome deficiency

•

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

•

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

•

en:increased urinary 3-oh-propionic acid

•

en:elevated serum levels of luteinizing hormone (lh)

•

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

•

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

•

en:elevated levels of vitamin b12

•

en:elevated inflammatory markers

•

en:elevated erythrocyte adenosine deaminase

•

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

•

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

•

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

•

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

•

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

•

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

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased phytanic acid oxidase activity

•

en:decreased or absent dihydropteridine reductase activity

•

en:decreased or absent ciliary motility

•

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

•

en:elevated pth (parathyroid hormone)

•

en:decreased beta-oxidation of pristanic acid

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:creatine decreased

•

en:contiguous gene deletion syndrome

•

en:cilia show inner and outer dynein arm defects

•

en:cerebrospinal fluid oligoclonal bands

•

en:carnitine deficiency

•

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

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:abnormal acylcarnitine profiles

•

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

•

en:cholesterol normal

•

en:elevated propionate

•

en:elevated serum bile acids

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:hypertriglyceridemia, transient

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:increased serum glutamine

•

en:increased serum creatine kinase (less common)

•

en:increased pyruvate in serum and csf

•

en:increased plasma long-chain acylcarnitines

•

en:increased free erythrocyte protoporphyrin

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

en:increased csf taurine

•

en:increased bile acid intermediates (dhca and thca)

•

en:inappropriately increased urine osmolality

•

en:hyponatremia in infancy

•

en:hypomethylation of satellite repeats on chromosome 1, 9, and 16

•

en:hyperuricuria

•

en:hypernatriuria

•

en:elevated testosterone

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

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

•

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

•

en:hyperbilirubinemia

•

en:holocarboxylase synthetase deficiency

•

en:hemoglobin decreased

•

en:hawkinsinuria

•

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

•

en:glyoxalase deficiency

•

en:glycogen accumulation in both liver and muscle

•

en:folate-dependent fragile site at xq28

•

en:fasting hyperinsulinemia

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:cellular arrest at g2 of the cell cycle

•

en:increased urinary thymine

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

en:low or absent follicle stimulating hormone (fsh)

•

en:normal serum parathyroid hormone (pth)

•

en:normal pyridinoline excretion in urine

•

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

•

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

•

en:mild elevation of triglycerides

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:methemoglobin concentration 12 to 19%

•

en:median mean platelet volume 13fl

•

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

•

en:low to very low hdl cholesterol

•

en:low serum uric acid

•

en:low plasma tryptophan (inflammatory type b)

•

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

•

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

•

en:large spermatozoa

•

en:ketoacidosis

•

en:intracellular granular material on ultrastructural analysis

•

en:increased urinary succinic acid

•

en:increased urinary neopterin

•

en:increased urinary isobutyryl glycine

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:increased uric acid with exercise

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased serum pyruvate

•

en:increased serum lactate during metabolic crisis

•

en:increased serum ferritin (in some patients)

•

en:normal to increased plasma glycine

•

en:no dicarboxylic aciduria

•

en:increased serum 1,25-dihydroxyvitamin d

•

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

•

en:coagulopathy (inr = 2.2 - 3.5)

•

en:vitamin k deficiency

•

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

•

en:tryptophanuria

•

en:telomere shortening

•

en:t-cell deficit

•

en:slightly increased serum alkaline phosphatase may occur

•

en:shortened telomeres (in 1 of 2 patients)

•

en:severe amyloid angiopathy

•

en:serum mitochondrial autoantibodies

•

en:serum lactate is usually normal

•

en:serum gastrin increased

•

en:serum creatine kinase 20-70 times normal

•

en:reduced serum uric acid

•

en:no evidence of perinatal infection

•

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

•

en:protein total decreased

•

•

en:proper antibody response to protein vaccinations

•

•

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

•

en:premature chromatid separation (pcs) observed in 5% to 50% cultured lymphocytes during metaphase

•

en:pms show deficient oxidation of debrisoquine

•

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

•

en:plasma protein c deficiency

•

en:partial deficiency of factor xiii (less common)

•

en:no mucopolysacchariduria

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:increased serum and urinary 2-oxoglutarate

•

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

•

en:increased serum, urinary, and csf lysine

•

en:decreased or normal serum factor i

•

en:disseminated intravascular coagulation

•

en:disorganized growth plate cartilage

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:deletion of chromosome 18p11.2

•

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

•

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

•

en:deficiency of fat-soluble vitamins

•

en:decrease plasma serine (fasting)

•

en:decreased tissue and serum alkaline phosphatase

•

en:decreased telomerase activity

•

en:decreased serum leptin

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:decreased plasma apolipoprotein c-ii

•

en:decreased iga, igg, igm

•

en:electrocardiogram abnormal

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:decreased factor xi

•

en:decreased erythrocyte plasmalogen

•

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

•

en:decreased dermal hydroxylysine content

•

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

•

en:decreased cortisol-binding globulin

•

en:decreased activity of nadph oxidase

•

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

•

en:decreased acid beta galactosidase protein and activity

•

en:cytoplasmic lamellar concentric inclusions

•

en:increased plasma progastrin

•

en:cytogenetic deletion of chromosome 19q13

•

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

•

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

•

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

•

en:glycoamino aciduria

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:elevated alkaline phosphatase

•

en:increased il-8

•

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

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

en:immunoreactive pc protein

•

en:hypoglycosylated serum transferrin

•

en:hypoalphalipoproteinemia

•

en:hyperoxaluria

•

en:hypercholesterolemia (reported in 2 patients)

•

en:high sweat sodium and chloride

•

en:high nonceruloplasmin-bound serum copper

•

en:hepatic argininosuccinate synthetase deficiency

•

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

•

en:folic acid deficiency

•

en:elevated plasma methionine (methioninemia)

•

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

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:elevated csf glycine

•

en:elevated hepatic transaminases

•

en:elevated alkaline phosphatase of bone origin

•

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

•

en:elevated progesterone

•

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

•

en:elevated serum iron and iron binding capacity

•

en:elevated urinary 2-ethylhydracrylate

•

en:elevated pyruvate (in most patients)

•

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

•

en:increased serum lactate dehydrogenase (ldh)

•

en:increased serum c26-bile-acid intermediates

•

en:increased serum growth hormone levels

•

en:increased serum lactate

•

en:increased serum prostaglandin e2

•

en:increased serum lactate hydrogenase

•

en:increased serum parathyroid hormone (pth)

•

en:increased serum s-adenosylmethionine

•

en:increased serum transferrin

•

en:increased urinary 3-methylcrotonylglycine

•

en:increased serum and urinary lactate

•

en:increased erythropoietin

•

en:increased serum acyl carnitines

•

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

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:increased igg level

•

en:increased hepatic parenchymal cell stainable iron

•

en:increased fractional excretion of uric acid

•

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

•

en:increased alpha-fetoprotein (1 patient)

•

en:immunoglobulin a decreased

•

en:hypoproteinemia due to hypercatabolism

•

en:hypoketotic hypoglycemia

•

en:hypoglycorrhachia (low glucose in csf)

•

en:hypoglycemia, fasting

•

en:hypocalciuria or normocalciuria

•

en:increased urinary hypoxanthine

•

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

•

en:increased urinary magnesium

•

en:normal 46,xy karyotype

•

en:raised tsh level

•

en:hyperphenylalaninemia

•

en:prolidase deficiency

•

en:presence of pc mrna

•

en:predominance of the d-stereoisomer

•

en:plasma aldosterone normal

•

en:phosphorylase kinase normal in muscle

•

en:pentagastrin stimulation test

•

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

•

en:no hematuria

•

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

•

en:normal cd8+/cd4+ ratio

•

en:neonatal hypocalcemia

•

en:increased urinary n-acetylated amino acids

•

en:mitochondrial deletions

•

en:methylmalonic aciduria, mild

•

en:methylenetetrahydrofolate reductase deficiency

•

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

•

en:median mean platelet volume (mpv) 20fl

•

en:may have increased serum parathyroid hormone (pth)

•

en:low or absent igm levels

•

en:low or absent growth hormone (gh)

•

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

•

en:low csf creatinine

•

en:low alkaline phosphatase

•

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

•

en:hyperprostaglandinuria

•

en:defective dna repair

•

en:hypermagnesemia

•

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

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

en:decreased decr enzyme activity

•

en:decreased csf pyridoxal 5-prime-phosphate (plp)

•

en:decreased csf methyltetrahydrofolate (mthf)

•

en:decreased cerebrospinal fluid folic acid

•

en:decreased beta-glucosidase protein and activity

•

en:decreased acetyl-coa carboxylase activity

•

en:chromosomal mosaicism in cultured cells

•

en:blood glucose normal

•

en:biotinidase deficiency

•

en:bilirubin conjugated increased

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

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

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:anti-iga antibodies commonly present

•

en:amylo-1,6-glucosidase deficiency

•

en:absent ch50 activity in complete c4 deficiency

•

en:absent alkyl-dhap synthase activity

•

en:abnormal liver enzymes (in some patients)

•

en:abnormal liver enzymes, episodic

•

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

•

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

•

en:abnormal cholesterol homeostasis

•

en:4-hydroxyphenylacetic aciduria

•

en:3-methylglutaconic aciduria (3-mgc)

•

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

•

en:decreased plasma apolipoprotein b (apob, 107730)

•

en:defect in chylomicron secretion

•

en:hyperglycinuria (disorder)

•

en:enzyme replacement therapy has not been effective

•

en:hypercalciuria

•

en:high sweat electrolyte

•

en:high plasma triglyceride levels

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:hepatic glycine cleavage defect

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

•

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

•

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

•

en:gonadotrophin increased

•

en:glucosuria, mild, intermittent

•

en:exercise-induced myoglobinuria in adults

•

en:elevated urinary ornithine, lysine, arginine

•

en:defect in n- and o-glycosylation

•

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

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated plasma luteinizing hormone (lh)

•

en:elevated plasma insulin

•

en:elevated bilirubin (bilirubinemia)

•

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

•

en:electron microscopy of foam cells shows lamellar inclusions

•

en:dyskinetic ciliary motility

•

en:direct hyperbilirubinemia

•

en:diminished lymphocyte response to phytohemaglutinin

•

en:defect in retrograde intraflagellar transport in cilia

•

en:reduced ferrochelatase activity

•

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

•

en:serum ferritin normal

•

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

•

en:lactate high

•

en:increased urinary propionyl glycine

•

en:increased urinary carnitine esters

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:increased urinary 3-methylglutaconic acid

•

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

•

en:increased serum citrulline (group b)

•

en:increased serum beta-hexosaminidase

•

en:increased serum alkaline phosphatase (in some patients)

•

en:increased serum acylcarnitine during febrile crisis

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:increased lysine in serum and csf

•

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

•

en:low level of c4 and c2

•

en:increased ferritin

•

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

•

en:increased acetoacetate: beta-hydroxybutyrate ratio (group b)

•

en:inappropriately low urine osmolality

•

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

•

en:immunoglobulin antibodies present

•

en:immotile cilia

•

en:hyperthreoninemia

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:hyperarginemia

•

en:hyperalphalipoproteinemia

•

en:hereditary fructose intolerance

•

en:low free carnitine

•

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

•

en:heparin cofactor ii deficiency (disorder)

•

en:platelet glycoprotein iiia deficiency

•

en:variable respiratory chain enzyme deficiency

•

en:vacuolated lymphocytes

•

en:urine uric acid decreased

•

en:unprocessed 3-oxoacyl coa thiolase

•

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

•

en:transferrin saturation increased

•

en:some cilia show abnormal beating patterns or immotility

•

en:serum aldosterone elevated

•

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

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

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

•

en:positive urinary bratton-marshall test

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:low serum acth

•

en:parathyroid hormone (pth) absent to low

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:no evidence of common prenatal infections

•

en:normal to slightly elevated plasma cholesterol

•

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

•

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

•

en:normal eosinophil peroxidase activity

•

en:normal baseline cortisol

•

en:normal activity of von willebrand factor-cleaving protease

•

en:mitochondrial complex i deficiency in muscle

•

en:mildly increased serum lactate

•

en:methylmalonic aciduria

•

en:hereditary angioedema

•

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

•

en:hematuria (less common)

•

en:abnormal columnization of chondrocytes

•

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

•

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

•

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

•

en:decreased-absent intestinal mucosa lactase activity

•

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

•

en:creatine phosphokinase increased

•

en:chronic hypoxemia

•

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

•

•

en:bleeding time normal

•

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

•

en:aminoaciduria, intermittent

•

en:abnormal cartilage collagen on em

•

en:decreased csf serine

•

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

•

en:4-hydroxyphenylpyruvic aciduria

•

en:2-aminoadipic aciduria

•

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

•

en:urinary excretion of sialylated oligosaccharides

•

en:unresponsive to acth stimulation

•

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

•

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

•

en:systemic amyloidosis may occur

•

en:structural abnormalities seen on chromosome analysis

•

en:skewed x-inactivation in females

•

en:hair bulb tyrosinase present

•

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

•

en:aldolase a deficiency

•

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

•

en:elevated acth

•

en:granular osmiophilic deposits (grod) in cells

•

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

•

en:glucose-6-phosphate deficiency

•

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

•

en:eosinophilia

•

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

•

en:elevated serum acid phosphatase

•

en:elevated sed rate

•

en:elevated long chain fatty acids

•

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

•

en:elevated creatine kinase (in some patients)

•

en:elevated androstenedione and testosterone

•

en:elevated plasma levels of lp(a)

•

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

•

en:decreased serum free thyroxine

•

en:decreased methionine synthase activity

•

en:decreased nasal nitric oxide

•

en:decreased or absent apolipoprotein a-i

•

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

•

en:decreased or normal serum c3

•

en:decreased plasminogen activity

•

en:decreased serum luteinizing hormone (lh)

•

en:decreased serum thyroxine (t4)

•

en:decreased sulfite oxidase activity

•

en:decreased switched memory b cells

•

en:duplication or deletion at 11p15.5

•

en:intermittent severe hypoglycemia (in some patients)

•

en:increased urinary adenosine

•

en:increased urinary o-linked sialopeptides

•

en:increased urinary s-sulfocysteine

•

en:incresased urinary pyruvate

•

en:inner and outer dynein arm defects, variable

•

en:low acth level

•

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

•

en:isovaleric acidemia

•

en:lack of lysosomal inclusions in visceral organs

•

en:low-molecular-weight proteinuria

•

en:methioninuria

•

en:increased total bilirubin may occur

•

en:increased urinary 2-methylbutyrylglycine

•

en:increased cholesterol

•

en:increased thyroid-stimulating hormone (tsh)

•

en:increased serum pyruvate in acute stage

•

en:increased serum manganese

•

en:increased serum ige

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased serum bile acids

•

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

•

en:increased plasma branched-chain fatty acids

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:increased ige level

•

en:increased excretion of urobilinogen

•

en:increased circulating renin level

•

en:increased biliverdin in bodily fluids

•

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

•

en:mild elevation of cholesterol

•

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

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:premature separation of centromeric heterochromatin

•

en:amelogenesis imperfecta nephrocalcinosis

•

en:very low igg

•

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

•

en:transient neonatal hypocalcemia (2p21del)

•

en:spongy degeneration of brain on histology

•

en:serum creatine kinase may be normal or increased

•

en:rheumatoid factor negative

•

•

en:reduced erythrocyte glucose/hexose transport

•

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

•

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

•

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

•

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

•

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

•

en:mucopolysaccharidosis type iiid

•

en:platelet antibody positive

•

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

•

en:paraproteinemia

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en:organic aciduria

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en:normal serum transferrin profiles

•

en:normal serum phytanic and pristanic acid

•

en:normal serum 1,25-dihydroxyvitamin d3

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en:normal renin level

•

en:normal or mildly reduced sphingomyelinase activity

•

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

•

en:normal igg levels

•

en:normal csf 5-hiaa

•

en:multiple tissue biopsies show lysosomal storage disease

•

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

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846697 • caches: c1=8 c2=1003 c3=1

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