Le Diko - en:elevated plasma and urine inorganic pyrophosphate (ppi)

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Le Diko - en:elevated plasma and urine inorganic pyrophosphate (ppi)

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en:elevated plasma and urine inorganic pyrophosphate (ppi)

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

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

•

en:laboratory abnormalities

•

en:severely decreased palmitate oxidation

•

en:decreased adiponectin

•

en:decreased csf homovanillic acid (hva)

•

en:decreased mitochondrial complex iii activity in muscle

•

en:decreased palmitate oxidation

•

en:enzyme replacement therapy has not been effective

•

en:serum corticosterone increased

•

en:decreased transferrin increased serum iron

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

en:hypercholesterolemia (reported in 2 patients)

•

en:decreased circulating aldosterone level

•

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

•

en:normal serum phytanic and pristanic acid

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:deficient efflux of intracellular cholesterol

•

en:decreased or absent serum citrulline

•

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

•

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

•

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

•

en:increased plasma levels of bile acid intermediates

•

en:increased serum uric acid

•

en:serum iron raised

•

en:'cloudy' or 'pink' blood (lipemia)

•

en:alkaline phosphatase normal

•

en:decreased levels of plasma vwf antigen

•

en:lipopigment in extraneuronal cells

•

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

•

en:increased transferrin saturation (>60%)

•

en:elevated serum transaminase levels

•

en:normal to mildly increased mucopolysacchariduria

•

en:normal serum biotin concentration

•

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:increased serum creatine kinase (patient a)

•

en:hyperglycolic aciduria

•

en:hyperarginemia

•

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

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

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

•

en:prominent leukocytosis (30,000/ml)

•

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

•

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

•

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

•

en:elevated fasting glucose

•

en:fumarase deficiency

•

en:low to very low hdl cholesterol

•

en:mildly elevated urinary mevalonic acid

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:normal urinary pterins

•

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:serum lactate is usually normal

•

en:very low leptin level

•

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

•

en:decreased serum trypsinogen

•

en:elevated acth

•

en:elevated 2-ketoglutarate (urine)

•

en:deficiency or absence of p22-phox protein

•

en:hyponatremia in infancy

•

en:decreased secretion of igf1 in response to gh administration

•

en:decreased or absent dihydropteridine reductase activity

•

en:decreased csf methyltetrahydrofolate (mthf)

•

en:abnormal urinary oligosaccharides

•

en:hypokalemia occurs during paralytic attacks

•

en:creatine phosphokinase serum increased

•

en:normal iga levels

•

en:greatly increased dopamine in plasma, urine, csf (approximately 10-fold increase)

•

en:polyploid sperm heads

•

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

•

en:lysyl hydroxylase deficiency

•

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

•

en:normal plasma total homocysteine

•

en:elevated urine unsulfated chondroitin sulfate

•

en:elevated serum phosphate in heterozygotes

•

en:elevated hcg (choriocarcinoma)

•

en:csf pleocytosis, particularly of lymphocytes

•

en:sce normal in heterozygotes

•

•

en:absent axonal flare response after intradermal histamine injection

•

en:decreased methylcobalamin (mecbl)

•

en:decreased phytanic acid oxidase activity

•

en:decreased plasminogen antigen

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

•

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

•

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

•

en:hyperlipidemia

•

en:increased chromosomal rearrangements (bone marrow and fibroblast culture)

•

en:increased plasma and urinary pipecolic acid

•

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

•

en:sweat test normal

•

en:increased csf interferon

•

en:plasma aldosterone increased

•

en:march myoglobinuria

•

en:isochromosome often missing in lymphocyte

•

en:myelin basic protein measurement, spinal fluid

•

en:elevated il1-beta

•

en:elevated alkaline phosphatase (varies from 1.3-20 times age-adjusted upper limit of normal)

•

en:diminished lymphocyte response to phytohemaglutinin

•

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

•

en:urine osmolarity decreased

•

en:organic aciduria, mild (in some patients)

•

en:chronic hypercapnia

•

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

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:decreased plasma apolipoprotein b (apob, 107730)

•

en:hemoglobin decreased

•

en:hyperchloremia (mean 111 mm)

•

en:hypokalemia during attacks

•

en:increased serum c-reactive protein, episodic

•

en:decreased adenosylcobalamin

•

en:platelet aggregation decreased

•

en:normal exocrine pancreatic function

•

en:polycythemia

•

en:serum and csf lactate may be increased

•

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

•

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

•

en:hypoglycemia, intermittent

•

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

•

en:hyperchloremia (mean 109 mm)

•

en:decreased or absent serum and urinary chenodeoxycholic acid and cholic acid

•

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

•

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

•

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

•

en:elevated plasma alloisoleucine

•

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

•

en:increased ck-mb

•

en:increased creatine kinase, mild to moderate

•

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

•

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

•

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

•

en:normal to elevated total plasma carnitine

•

en:mildly decreased serum creatinine

•

en:very low iga

•

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

•

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

•

en:decreased serum thyroxine (t4)

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:microdeletion 22q11.2

•

•

en:serum homocysteine normal

•

en:no metabolic abnormalities

•

en:decreased leptin

•

en:elevated urine ceramide levels

•

en:decreased serum and muscle coenzyme q

•

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

•

en:high urinary orotic acid

•

en:decreased insulin receptor binding

•

en:decreased activity of galactocerebrosidase

•

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

•

en:abnormal nuclear morphology

•

en:high serum osmolality

•

en:decreased or normal serum factor i

•

en:hypoalbuminemia (in 83%)

•

en:increased interferon-alpha signal

•

en:low to normal plasma methionine

•

en:serum creatine kinase may be normal

•

en:prolonged partial thromboplastin time (ptt)

•

en:neonatal hyperbilirubinemia

•

en:increased urinary s-sulfocysteine

•

en:decreased natural killer cells

•

en:bleeding time normal

•

en:very long chain fatty acid accumulation

•

en:normal to mildly increased serum creatine kinase

•

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

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

en:low urinary orotic acid

•

en:metabolic acidosis

•

en:methylenetetrahydrofolate reductase deficiency

•

en:mitochondrial malonyl-coa decarboxylase activity in fibroblasts is very low (as low as 4%)

•

en:normal constitutional karyotype

•

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

•

en:myoglobinuria after exertion (in some patients)

•

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

•

en:nonketotic hypoglycemia

•

en:low serum ceruloplasmin

•

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

•

en:low total serum protein

•

•

en:low or undetectable insulin

•

en:low or absent growth hormone (gh)

•

en:low leukocyte alkaline phosphatase activity

•

en:low csf creatinine

•

en:lactate dehydrogenase increased

•

en:normal lysosomal hydrolases

•

en:ketoses, metabolic

•

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

•

en:increased urinary thiosulfate

•

en:increased urinary sulfatides

•

en:increased urinary orotic acid (in some patients)

•

en:increased urinary hypoxanthine

•

en:increased soluble il2 receptor

•

en:increased serum vitamin b12

•

en:increased serum triiodothyronine (t3)

•

en:normal isoelectric focusing of serum transferrin

•

en:normal urinary 17-ketosteroids

•

en:normal serum erythropoietin (epo, 133170)

•

en:reduced bending capacity of cilia

•

en:subtelomeric deletion of chromosome 16p

•

en:submucosal macrophages filled with sphingolipids

•

en:serum growth hormone increased

•

en:serum cortisol elevated

•

en:serum chloride level decreased (finding)

•

en:serum calcium normal

•

en:serum alkaline phosphatase normal or mildly increased

•

en:serum albumin low result

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:reticulocyte count increased

•

en:reduced total and free carnitine in plasma and tissue

•

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

•

en:reduced ferrochelatase activity

•

en:reduced erythrocyte adenosine deaminase activity

•

en:protein c decreased

•

en:normal to increased plasma threonine

•

en:prolonged prothrombin and partial thromboplastin times

•

en:presence of pc mrna

•

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

•

en:positive kveim-siltzbach skin test

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:platelet count normal

•

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

•

en:p5c levels increased in urine

•

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

•

en:occasionally mild elevation of csf protein

•

en:normocalcemia

•

en:increased serum creatine kinase in patients with muscle involvement

•

en:normal transferrin saturation

•

en:normal to slightly high alkaline phosphatase

•

en:increased serum transferrin

•

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

•

en:increased serum creatine kinase during episodes

•

en:decreased activity of cytosolic acetoacetyl-coa thiolase (acat2, 100678)

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:decreased serum cobalamin

•

en:decreased serum alpha-2 macroglobulin levels

•

en:decreased or absent pts activity

•

en:decreased levels of certain coagulation factors

•

en:decreased fbp1 enzyme activity

•

en:decreased csf folate

•

en:decreased csf arginine

•

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

•

en:decreased beta-oxidation of pristanic acid

•

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

•

en:decreased activity of thymidine phosphorylase

•

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

•

en:creatine kinase normal between episodes

•

en:decreased telomere length in lymphocytes

•

en:contiguous gene deletion syndrome

•

en:cells show increased sensitivity to ionizing radiation

•

en:bilirubin conjugated increased

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

en:aminoaciduria, mild (in some patients)

•

en:adenylosuccinase deficiency (finding)

•

en:absent or abnormal thyroglobulin

•

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

•

en:absence of chylomicrons in lymph and plasma

•

en:abnormal liver function tests (less common)

•

en:3-methylglutaric aciduria (3-mga)

•

en:2-oxoadipic aciduria

•

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

•

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

•

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

•

en:decreased tissue total and free carnitine

•

en:increased serum creatine kinase (less common)

•

en:gonadotrophin increased

•

en:increased pristanic acid

•

en:increased long-chain acylcarnitine

•

en:increased erythropoietin

•

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

•

en:impaired response to gm-csf

•

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

•

en:i-cell disease

•

en:hyperoxalaemia

•

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

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:hemophilia b

•

en:hawkinsinuria

•

en:hair bulbs will pigment when incubated with tyrosine

•

•

en:glyoxalase deficiency

•

en:defect in oxidative phosphorylation

•

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

•

en:fasting hyperinsulinemia

•

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

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:elevated serum iron

•

en:elevated pth (parathyroid hormone)

•

en:elevated plasma desmosterol

•

en:elevated gamma-glutamyltransferase

•

en:elevated fibroblast free sialic acid

•

en:elevated biopterin in csf

•

en:elevated 8(9)-cholestenol

•

en:elevated 1,25(oh)2 d3

•

en:deficiency of fat-soluble vitamins

•

en:tenascin x deficiency (serum and fibroblasts)

•

•

en:tyrosinemia (transient, resolves in infancy)

•

en:increased urinary dicarboxylic acid, transient

•

en:low plasma arginine

•

en:low or undetectable c-peptide

•

en:low or absent luteinizing hormone (lh)

•

en:low ldl cholesterol

•

en:low density lipoprotein increased

•

•

en:intracellular granular material on ultrastructural analysis

•

en:increased urinary succinic acid

•

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

•

en:increased urinary organic acids (in some patients)

•

en:increased urinary fumaric acid

•

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

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased urinary adenosine

•

en:mildly elevated acth

•

en:increased tissue long-chain fatty acids

•

en:increased susceptibility to ebv infection

•

en:increased serum thyrotropin

•

en:increased serum ige

•

en:increased serum iduronate sulfatase

•

en:increased serum gamma-ggt (231950)

•

en:increased serum ferritin (in some patients)

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased serum and urinary 2-oxoglutarate

•

en:increased prv-1 (162860) mrna

•

en:increased plasma 2-methylbutyrylcarnitine

•

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

•

en:increased il1b increased soluble il2r

•

en:increased il-8

•

en:markedly increased serum creatine kinase

•

en:mild to moderate hyperammonemia

•

en:increased csf threonine

•

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

•

en:vitamin b12 deficiency (uncommon)

•

en:urinary excretion of mucopolysaccharides

•

en:urine cortisol, increased

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

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

•

en:t-cell deficit

•

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

•

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

•

en:serum iron normal

•

en:serum ferritin hyperglycosylation

•

en:serum bilirubin increased

•

en:secondary decreases in complex i and iv activity

•

en:reticulocytosis

•

en:reduced electroretinogram (scotopic > photopic) becoming extinguished in older patients

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:mitochondrial malic enzyme reduced

•

en:polymorphonuclear leukocytosis, episodic

•

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

•

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

•

en:partial deficiency of factor xiii (less common)

•

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

•

en:normal serum transferrin profiles

•

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

•

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

•

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

•

en:normal lactate (hcs)

•

en:normal eosinophil peroxidase activity

•

en:normal csf neurotransmitters

•

en:normal baseline cortisol

•

en:mucopolysaccharidosis type iiid

•

en:increased disialotransferrin and asialotransferrin levels

•

en:low serum alpha-fetoprotein (recessive)

•

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

•

en:coagulopathy (inr = 2.2 - 3.5)

•

en:decreased telomerase activity

•

en:decreased serum free thyroxine

•

en:decreased or normal serum c3

•

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

•

en:decreased levels of the e2 subunit protein

•

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

•

en:decreased levels of cellular and mitochondrial fes-containing proteins

•

en:decreased hepatic udp-glucuronyl-transferase activity

•

en:decreased csf pyridoxal

•

en:decreased csf ferritin despite normal serum ferritin levels

•

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

•

en:decreased beta-thromboglobulin

•

en:cortisol does not decrease on dexamethasone suppression test

•

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

•

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

•

en:chromosomal instability

•

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

•

en:bilirubin may or may not be increased

•

en:bicarbonaturia

•

en:aspartylglycosaminuria

•

en:aminoaciduria (less common)

•

en:aldosterone level increased above normal

•

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

•

en:absent axonal flare response to intradermal histamine injection

•

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

•

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

•

en:2-aminoadipic aciduria

•

en:increased bone serum acid phosphatase

•

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

•

en:decreased thrombospondin

•

en:decreased activity of mitochondrial complex i

•

en:deficiency of fructokinase

•

en:excessive iodide trapping

•

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

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

en:urinary prostaglandin e

•

en:hydrocortisone decreased

•

en:homocitrullinuria

•

en:hemizygous deletion at 7q11.23

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

•

en:glucosidase i deficiency in liver and fibroblasts

•

en:globulin gamma serum plasma increased result

•

en:galactosuria

•

en:folic acid deficiency

•

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

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:impaired platelet aggregation

•

en:elevated total bilirubin

•

en:elevated 8-dehydrocholesterol

•

en:elevated sweat chloride (some)

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

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

•

en:dicarboxylic aciduria

•

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

•

en:dyskinetic ciliary motility

•

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

•

en:elevated androstenedione

•

en:elevated plasma citrulline (citrullinemia)

•

en:elevated serum acid phosphatase

•

en:elevated serum alpha-fetoprotein

•

en:elevated serum uric acid concentrations

•

en:elevated bilirubin (bilirubinemia)

•

en:increased serum lactate dehydrogenase (ldh)

•

en:increased serum acylcarnitines

•

en:increased serum acyl carnitines

•

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

•

en:increased serum lactate

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:increased serum prostaglandin e2

•

en:increased serum thrombopoietin may occur

•

en:increased triglycerides (less common)

•

en:increased urinary, plasma, and csf dihydrouracil

•

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

•

en:increased plasma free cholesterol

•

en:increased plasma homogentisic acid (hga)

•

en:increased bile acid intermediates (dhca and thca)

•

en:increased nasal-potential difference (some)

•

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

•

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

•

en:increased fractional excretion of uric acid

•

en:increased di- and asialo-transferrin

•

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

•

en:increased chromosomal breakage

•

en:increased ammonia with exercise

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

en:increased 18-oxocortisol

•

en:increased 18-hydroxycortisol

•

en:inappropriately normal or increased plasma hepcidin

•

en:impaired oxidation of pyruvate

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:indirect bilirubin increased

•

en:increased urinary sulfite

•

en:poor mitogenic response to growth factors

•

en:intermediate level of cellular sensitivity to uv light

•

en:normal serum plasmalogen

•

en:hypocitraturia

•

en:proteinuria (type ii, congenital)

•

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

•

en:plasma triglycerides increased

•

en:plasma aldosterone normal

•

en:phosphate normal

•

en:peroxisome deficiency

•

en:partial deficiency of factor xiii(c)

•

en:parathyroid hormone level increased

•

•

en:no evidence of intrauterine infection in mother or newborn

•

en:no chromosome breakage

•

en:normal to prolonged bleeding time

•

en:normal total urinary coproporphyrin

•

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

•

en:intermittent increase of urinary ethylmalonic acid

•

en:marked elevation of erythrocyte sedimentation rate

•

•

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

•

en:low or absent igm levels

•

en:low or absent thyrotropin (tsh)

•

en:lysosomal-like storage vacuoles in various tissues

•

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

•

en:mitochondria dna deletion

•

en:normal serum cobalamin

•

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

•

en:neutropenia (in 1 patient)

•

en:normal blood lactate

•

en:normal complex ii activity

•

en:normal maltase, isomaltase, and sucrase activity

•

en:normal serum 25-hydroxyvitamin d3

•

en:hypoglycosylation of plasma glycoproteins

•

en:3-methylglutaconic aciduria (3-mgc)

•

en:hypocalciuria or normocalciuria

•

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

•

en:decreased neopterin and biopterin in csf

•

en:decreased long-chain fatty acid oxidation

•

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

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

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

•

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

•

en:decreased c3 activity

•

en:decreased blood levels of cationic amino acids

•

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

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

en:decreased activity of phosphoglycerate kinase 1

•

en:decreased acid sphingomyelinase activity

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:cell studies show increased dna breakage

•

en:decreased phgdh activity (fibroblasts)

•

en:cd4/cd8 ratio decreased

•

en:broad tissue deposition of amylopectin-like material

•

en:antithrombin iii deficiency

•

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

•

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

•

en:alkaline phosphatase serum increased

•

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

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

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

•

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

•

en:abnormal cardiolipin subspecies composition

•

en:4-hydroxyphenyllactic aciduria

•

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

•

en:pyruvic acidemia

•

en:decreased nk cells (in some patients)

•

en:decreased plasma free carnitine

•

en:hyperprolinemia (5-10 times normal)

•

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

•

en:hypermagnesemia

•

en:hyperglycinemia

•

en:hypercholesterolemia (10%)

•

en:hyperbilirubinemia in those with liver failure

•

en:hydroxyprolinuria

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:hepatic glycine cleavage defect

•

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

•

en:generalized amyloid deposition

•

en:folate-dependent fragile site at xq28

•

en:foam cells in bone marrow and renal glomeruli

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:fibroblasts show decreased mitochondrial complex v activity

•

•

en:decreased plasma lpl levels (in some patients)

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

en:decreased red cell pyruvate kinase activity

•

en:decreased serum ceruloplasmin

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:decreased tetrasialotransferrin levels

•

en:deficiency or absence of p91-phox protein

•

•

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

•

en:elevated urinary phosphoethanolamine

•

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

•

en:elevated liver transaminases

•

en:elevated long chain fatty acids

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated propionate

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:pseudohypertriglyceridemia in adult form

•

en:hyperchloremia (mean 114 mm)

•

en:routine liver function tests normal

•

en:increased urinary oxylate

•

en:normal concentration of parathyroid hormone

•

en:normal collagen type i studies

•

en:normal activity of von willebrand factor-cleaving protease

•

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

•

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

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

•

en:myoglobinuria after exertion

•

en:low serum uric acid

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:low plasma free and total carnitine

•

en:little to absent aspartylglucosaminuria activity

•

en:lactic acidemia

•

en:iron overload (in some patients)

•

en:increased urinary 7-biopterin (primapterin)

•

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

•

en:increased urinary 2-ketoglutarate (variable)

•

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

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:increased sodium-potassium pump activity

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:increased plasma pipecolic acid

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:increased neopterin in urine and csf

•

en:increased csf pyruvic acid

•

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

•

en:incomplete n-glycosylation of cellular proteins

•

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

•

en:iiga and igg antigliadin antibodies (aga)

•

en:hypouricemia

•

en:normal male karyotype (46,xy)

•

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

•

•

en:serum calcium elevated

•

en:serum bicarbonate increased

•

en:variably increased serum creatine kinase

•

en:urine odor, maple syrup

•

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

•

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

•

en:unprocessed 3-oxoacyl coa thiolase

•

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

•

en:type 1 collagen overmodification

•

en:translocation of chromosomes 9 and 13

•

en:transcobalamin ii deficiency

•

en:spongy degeneration of brain on histology

•

en:shortened telomeres (in 1 of 2 patients)

•

en:serum phosphate concentration below normal

•

en:serum folate low

•

en:serum c-reactive protein may be increased

•

en:normal serum cobalamin (vitamin b12)

•

en:platelet glycoprotein iiia deficiency

•

en:normal sweat electrolytes

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

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

•

en:persistent ebv viremia

•

en:phosphaturia may disappear after a long period of time

•

en:platelet factor 4 decreased

•

en:positive antinuclear antibody test

•

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

•

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

•

en:proteinuria in those with cystic kidneys

•

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

•

en:reduced serum uric acid

•

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

•

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

•

en:hypokalemia during periodic paralysis (most patients)

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:hyperlipoproteinemia type i

•

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

•

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

•

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

•

en:decreased circulating renin level

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:decreased axonal flare response after intradermal histamine injection

•

en:decreased amount and activity of mitochondrial complexes i and iv

•

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

•

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

•

en:cd4+/cd8+ ratio often reversed

•

en:borderline elevated low-density lipoprotein

•

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

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

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

•

en:adrenocorticotropic hormone, increased

•

en:accumulation of cholesterol esters in various tissues

•

en:decreased fumarate hydratase activity

•

en:absent or severely reduced levels of serum immunoglobulins

•

en:abnormal urinary collagen-derived pyridinium crosslinks (absent glc-gal-pyd)

•

en:abnormal oral glucose tolerance

•

en:abnormal liver function tests (sgot, sgpt)

•

en:abnormal karyotype in 3 patients involving distal 6p

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:vitamin d deficiency

•

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

•

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

•

en:translocation between 18q21 and 14q32

•

en:tay-sachs disease

•

en:serum creatine kinase may be normal or elevated

•

en:hyperglycinemia (1 patient)

•

en:serum calcitonin, increased

•

en:decreased factor xi

•

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

•

en:decreased intracellular fmr protein

•

en:elevated 3-hydroxypropionic acid

•

en:hypercalcemia

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:high sister chromatid exchange (sce) rate

•

en:hematuria (less common)

•

en:glycosuria (less common)

•

en:glycogen storage disease type vii

•

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

•

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

•

en:female carriers show markedly skewed x inactivation

•

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

•

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

•

en:elevated urinary hyaluronic acid levels

•

en:elevated erythrocyte adenosine deaminase

•

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

•

en:hair bulb tyrosinase present

•

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

•

en:decreased scad activity

•

en:decreased nasal nitric oxide

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

en:dilated rough endoplasmic reticulum (rer)

•

en:decreased or absent udp-glucuronyl-transferase activity

•

en:decreased plasma triglycerides

•

en:decreased renal calcium excretion

•

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

•

en:decreased serum acth

•

en:decreased serum luteinizing hormone (lh)

•

en:decreased serum vitamin a

•

en:decreased triiodothyronine level

•

en:dhea sulfotransferase below limit of detection

•

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

•

en:deficiency of serum properdin p factor

•

en:increased urinary sialylglycopeptides

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased urinary glycosphingolipids, particularly globotriaosylceramide

•

en:increased urinary mannose-containing oligosaccharides

•

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

•

en:intermittent dicarbonic aciduria

•

en:ketonuria, acute

•

en:long-chain dicarboxylic aciduria

•

en:low-normal igm

•

en:lower total cholesterol

•

en:low growth hormone levels

•

en:increased urinary 3-oh-butyric acid

•

en:increased total and conjugated bilirubin

•

en:increased urinary 2-methylbutyryl glycine

•

en:increased urinary 2-methylacetoacetic acid

•

en:inappropriately increased urine osmolality

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased serum ferritin

•

en:increased serum creatine kinase, mild

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:increased plasma proglucagon

•

en:increased plasma pristanic acid

•

en:increased plasma creatine

•

en:increased levels of 3-alpha-7-alpha-12-alpha-trihydroxy-5-beta-cholestanoic acid (thca) in bile, urine, and serum

•

en:increased bone-specific alkaline phosphatase

•

en:low plasma triglyceride level

•

en:increased alpha-fetoprotein (1 patient)

•

en:increased serum beta-carotene

•

en:reduced erythrocyte gs activity

•

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

•

en:serum iron low (finding)

•

en:variegated translocation mosaicism in cultured fibroblasts

•

en:hyperphenylalaninemia

•

en:variable hypoglycemia

•

en:type iii collagen defect

•

en:type i, classic, decreased antithrombin iii levels

•

en:triglyceride decreased

•

en:transaminitis

•

en:thrombocytopenia

•

en:t-lymphocytopenia

•

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

•

en:severely decreased activity of beta-1,4-mannosyltransferase (less than 10% of normal)

•

en:serum phosphate normal

•

en:serum ammonia increased

•

en:markedly reduced iga levels

•

en:secondary decrease of plasma free carnitine

•

en:protein urine absent

•

en:positive urine dnph screening test

•

en:oestradiol decreased

•

en:normal serum phosphorus

•

en:normal serum bile acids

•

en:normal plasma and tissue carnitine

•

en:normal lysyl oxidase activity

•

en:normal igm levels

•

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

•

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

•

en:mildly elevated blood ammonia

•

en:median mean platelet volume (mpv) 12.5fl

•

en:impairment of urinary concentration

•

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

•

en:hypernatriuria

•

en:b lymphocytopenia

•

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

•

en:decreased dna excision repair

•

en:decreased complement factor d

•

en:decreased activity of tyrosine hydroxylase

•

en:decreased activity of the pdh phosphatase

•

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

•

en:decreased acetyl-coa carboxylase activity

•

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

•

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

•

en:cystathioninuria (lab finding)

•

en:chromosome 11q23.3 deletion

•

en:cholesterol low

•

en:blood urea nitrogen increased

•

en:decreased nasal nitric oxide (in some patients)

•

en:anti-ds dna antibody

•

en:aneuploidy of the x chromosome

•

en:amylo-1,6-glucosidase deficiency

•

en:alkaline phosphatase decreased

•

en:aldosterone concentration below normal

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

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

•

en:abnormal serum liver enzyme levels

•

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

•

en:abnormal acylcarnitine profiles

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:5-hiaa csf may be normal or decreased

•

en:3-methylglutaric aciduria

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased or increased serum testosterone

•

en:hyperlipoproteinemia type iib

•

en:elevated dihydrobiopterin in csf

•

en:hyperkalemia during attacks

•

en:holocarboxylase synthetase deficiency

•

en:hemizygous deletion at 4p16.3

•

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

•

en:glutaric aciduria

•

en:gamma-glutamylcysteine synthetase (glutamate-cysteine ligase) deficiency

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:fragmentation of the mitochondrial network

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

en:eosinophilia, mild

•

en:elevated white blood cell cystine

•

en:elevated gastrin concentration

•

en:elevated csf/plasma glycine ratio

•

en:decreased plasma serine

•

en:elevated alkaline phosphatase of bone origin

•

en:electrolyturia (1 patient)

•

en:disorganized growth plate cartilage

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:dermatan sulfate excretion in urine

•

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

•

en:deficiency of laminin in basement membranes

•

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

•

en:decreased thyroxine level

•

en:decreased serum l-transferrin (heterozygous patient)

•

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

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased s-ado:saicar ratio

•

en:'rectilinear profiles' ultrastructurally in cells

•

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

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:increased serum and csf glycine

•

en:karyomegaly may be found in other visceral organs

•

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

•

en:iodide organification defect

•

en:5-oxoprolinase deficiency

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:increased urinary urate

•

en:increased urinary hga

•

en:increased urinary excretion of cystine

•

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

•

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

•

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

•

en:increased serum lactate in acute stage

•

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

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

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

•

en:increased rai (radioactive iodine) uptake

•

en:increased plasma proinsulin

•

en:increased lysine in serum and csf

•

en:increased ferritin

•

en:increased csf glycine

•

en:increased 11-deoxycortisol

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

en:impaired o-glycosylation

•

en:impaired mitochondrial translation

•

en:impaired creatine uptake in fibroblasts

•

en:hypocholesterolemia

•

en:hypocalciuria

•

en:large spermatozoa

•

en:liver function tests normal

•

en:hypertriglyceridemia

•

en:plasma protein c deficiency

•

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

•

en:transferrin saturation increased

•

en:thyroid hormone organification defect

•

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

•

en:some fragmented or disrupted golgi

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

en:serum thyroxine may be decreased or normal

•

en:round, yellow-brown dha urine crystals

•

en:reduced igg levels, particularly igg2 subclass

•

•

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

•

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

•

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

•

en:low level of c4 and c2

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:no hyperuricemia

•

en:normal phytanic acid

•

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

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:neutrophilia, both basal and during infections

•

en:mitochondrial complex i deficiency in muscle

•

en:metachromasia of white blood cells and fibroblasts

•

en:lysine-ketoglutarate reductase deficiency

•

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

•

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

•

en:low plasma methionine

•

en:low or absent iga levels

•

en:hypoalphalipoproteinemia

•

en:intermittent ethylmalonic aciduria

•

en:hyperprolinemia (10-15 times normal)

•

en:decreased activity of triosephosphate isomerase

•

en:decreased plasma esterified cholesterol

•

en:decreased mitochondrial nadp(h)

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

en:decreased glomerular filtration rate (gfr)

•

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

•

en:decreased fibroblast beta-hexosaminidase

•

en:decreased fibroblast alpha-mannosidase

•

en:decreased csf glycine

•

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

•

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

•

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

•

en:decreased b cells

•

en:decreased activity of mitochondrial respiratory chain complex i

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

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

•

en:cytosolic phosphoenolpyruvate carboxykinase deficiency

•

en:cholesterol normal

•

en:atrial abnormalities on electrocardiogram

•

en:alpha ketoadipic aciduria

•

en:acute hyperammonemia

•

en:absent pro alpha 2(i) chain synthesis (fibroblasts)

•

en:absent dystrophin on muscle biopsy

•

en:absence of hepatic udp-glucuronyl-transferase

•

en:hyperchloridura

•

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

•

en:abnormal eeg in 25% hospitalized patients

•

en:abetalipoproteinemia (lab finding)

•

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

•

en:abnormal isoelectric focusing of serum transferrin

•

en:decreased platelet derived growth factor

•

en:elevated plasma campesterol

•

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

•

en:high serum inosine levels

•

en:heteroplasmic partial duplication of mtdna

•

en:hepatic gamma-cystathionase deficiency

•

en:hepatic argininosuccinate synthetase deficiency

•

en:hemoglobin f increased

•

en:foam cells in visceral organs and cns

•

en:fasting chylomicronemia

•

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

•

en:elevated urinary epinephrine

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:elevated progesterone

•

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

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:defect in retrograde intraflagellar transport in cilia

•

en:decreased serum bun

•

en:decreased serum androgens

•

en:decreased serum thiamine pyrophosphate

•

en:decreased ubiquinone-10

•

en:elevated inflammatory markers

•

en:decreased urinary calcium and phosphate excretion

•

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

•

en:echocardiogram abnormal

•

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

•

en:elevated calcitonin

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:elevated gamma-glutamyltransferase (ggt)

•

en:lactate high

•

en:low acth level

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:low or normal serum erythropoietin

•

en:methylmalonic aciduria

•

en:low serum acth

•

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

•

en:median mean platelet volume 13fl

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:methioninuria

•

en:lack of lysosomal inclusions in visceral organs

•

en:increased urinary 3-methylglutaconic acid

•

•

en:keratan sulfate excretion in urine that decreases with age

•

en:iron deposition in basal ganglia, liver, pancreas, visceral organs detectable by ct and mri

•

en:increased urinary sulfatide excretion

•

en:increased urinary isobutyryl glycine

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:increased urinary 2-oxoglutaric acid

•

en:increased serum serotonin in 25%

•

en:increased serum s-adenosylhomocysteine

•

en:increased serum manganese

•

en:increased serum creatine kinase in acute stage

•

en:molybdenum cofactor deficiency

•

en:microsomal hmg-coa reductase decreased

•

en:rheumatoid factor negative

•

en:normal csf 5-hiaa

•

en:saposin a deficiency (finding)

•

en:vacuolated lymphocytes

•

en:urine uric acid decreased

•

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

•

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

•

en:transient hyperlipidemia

•

en:some cilia show abnormal beating patterns or immotility

•

en:shortened telomeres (1 patient)

•

en:serum triglycerides normal

•

en:serum pristanic acid increased

•

en:serum mitochondrial autoantibodies

•

en:serum creatine kinase may be normal or increased

•

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

•

en:normal igg levels

•

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

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

en:phosphaturia

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

en:no evidence of common prenatal infections

•

en:normal tyrosinase

•

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

•

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

•

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

•

en:normal lysl hydroxylase activity

•

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

•

en:increased sensitivity to adrenergic and cholinergic agents

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6845815 • caches: c1=8 c2=1003 c3=1

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