Diko : en:increased urinary 2-butanone

en:increased urinary 2-butanone

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1859855

Associations d'idées

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1000

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:very long chain fatty acid accumulation

•

en:shortened telomeres (1 patient)

•

en:antithrombin iii deficiency

•

en:decreased cpt1 activity

•

en:elevated progesterone

•

en:high m-component

•

en:hyperlysinemia

•

en:hypoglycemia

•

en:hypoxia

•

en:increased interferon-alpha signal

•

en:increased intracellular fmrp mrna

•

en:may have increased serum parathyroid hormone (pth)

•

en:partial deficiency of factor xi(c)

•

en:reduced bending capacity of cilia

•

en:reduced ferrochelatase activity

•

en:low serum magnesium

•

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

•

en:increased ck-mb

•

en:no chromosomal breakage

•

en:cutaneous anergy

•

en:normal or mildly reduced sphingomyelinase activity

•

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

•

en:low or absent luteinizing hormone (lh)

•

en:increased urinary methylcitrate

•

en:normal plasma phytanic acid

•

en:hemizygous deletion at 4p16.3

•

en:excessive urinary 5-oxo-l-proline

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

en:decreased circulating aldosterone level

•

en:decreased activity of pyruvate dehydrogenase complex

•

en:glucosuria, mild, intermittent

•

en:elevated csf/plasma glycine ratio

•

en:liver enzymes abnormal

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

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

•

en:increased serum creatine kinase in acute stage

•

en:decreased circulating cortisol level

•

en:elevated acth

•

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

•

en:decreased hexokinase activity in red blood cells

•

en:decreased acid sphingomyelinase activity

•

en:cerebrospinal fluid oligoclonal bands

•

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

•

en:normal prolyl 4-hydroxylase activity

•

en:reduced serum uric acid

•

en:abnormal phospholipid profile

•

en:increased chromosomal breakage

•

en:transferrin saturation increased

•

en:serum copper decreased

•

en:androgens increased

•

en:prolonged prothrombin time (pt)

•

en:elevated serum transferrin saturation

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:elevated serum iron

•

en:electrolyte disturbances from intractable diarrhea

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:chronic hypoxemia

•

en:poor mitogenic response to growth factors

•

en:creatine kinase levels may normalize with disease progression

•

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

•

en:acute hyperammonemia

•

en:decreased dermal hydroxylysine content

•

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

•

en:elevated alkaline phosphatase of bone origin

•

en:decreased plasma free carnitine

•

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

•

en:decreased circulating renin level

•

en:thyroid dyshormonogenesis 4

•

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

•

en:mild hyperammonemia

•

en:serum thyroxine may be decreased or normal

•

en:no lactic acidosis

•

en:no c8 antigen detected

•

en:defective (ca2+) mobilization in t cells

•

en:hypokalemia occurs during paralytic attacks

•

en:hyperbilirubinemia

•

en:dicarboxylic aciduria

•

en:defective dna repair

•

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

•

en:proteinuria (type ii, congenital)

•

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

•

en:b lymphocytopenia

•

en:decreased plasma arginine

•

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

•

en:decreased xanthine dehydrogenase activity

•

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

•

en:high ebv viral load

•

en:hyponatremic dehydration, rarely

•

en:low or absent growth hormone (gh)

•

en:normal extrarenal responses to ddavp administration

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:high urinary orotic acid

•

en:severely decreased palmitate oxidation

•

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

•

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

•

en:serum cortisol decreased

•

en:elevated alpha-ketoglutarate (in most patients)

•

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

•

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

•

en:cystathionine beta-synthase deficiency disease

•

en:shortened telomeres (classic feature, nola3 patient)

•

en:normal isoelectric focusing of serum transferrin

•

en:biotinidase deficiency

•

en:decreased serum levels of maoa products

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:increased prv-1 (162860) mrna

•

en:increased serum butyryl carnitine

•

en:increased urinary acetoacetic acid

•

en:increased urinary excretion of coproporphyrin i

•

en:decreased axonal flare response after intradermal histamine injection

•

en:partial deficiency of factor xiii(c)

•

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

•

en:deficiency of creatine phosphate in brain

•

en:increased ammonia with exercise

•

en:increased urinary hga

•

en:low acth level

•

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

•

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

•

en:transferase deficiency galactosemia

•

en:increased biliverdin in bodily fluids

•

en:increased urinary 2-methylacetoacetic acid

•

en:increased susceptibility to ebv infection

•

en:decreased cerebrospinal fluid folic acid

•

en:hypoproteinemia (in 1 patient)

•

en:elevated hepatic transaminases

•

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

•

en:deficiency or absence of p22-phox protein

•

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

•

en:normal arterial oxygen saturation

•

en:normocalcemia

•

en:decreased mucosal alkaline phosphatase

•

en:decreased serum ferritin

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

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

•

en:elevated 8-dehydrocholesterol

•

en:elevated serum transaminases during infections

•

en:pyruvate-induced insulin secretion

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:sce normal in heterozygotes

•

en:high serum inosine levels

•

en:lipopigment in extraneuronal cells

•

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

•

en:intermediate level of cellular sensitivity to uv light

•

en:serum ammonia increased

•

en:hematuria (less common)

•

en:decreased beta-glucosidase protein and activity

•

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

•

en:abnormal fecal fat

•

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

•

en:decreased or normal serum c3

•

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

•

en:increased serum direct bilirubin

•

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

•

en:rheumatoid factor negative

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:prolonged partial thromboplastin time (ptt)

•

en:increased csf lactate during acute episodes

•

en:green serum

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:electron microscopy of foam cells shows lamellar inclusions

•

en:cerebrospinal fluid lymphocytosis

•

en:cholesterol normal

•

en:decreased adiponectin

•

en:decreased tissue total and free carnitine

•

en:defect in dna repair

•

en:hemoglobin f increased

•

en:hypertriglyceridemia

•

en:orotic aciduria

•

en:antiphospholipid antibody

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:csf pleocytosis, particularly of lymphocytes

•

en:decreased activity of ppt1

•

en:decreased nasal nitric oxide

•

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

•

en:elevated plasma propionylcarnitine

•

en:elevated urinary 3-methylglutaconate

•

en:hyperphosphatemia, transient

•

en:raised c-reactive protein

•

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

•

en:cytogenetic deletion of chromosome 19q13

•

en:increased serum bile acids

•

en:increased rai (radioactive iodine) uptake

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased serum acylcarnitine during febrile crisis

•

en:increased serum unconjugated bilirubin

•

en:increased serum citrulline (group b)

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased serum gm-csf

•

en:increased serum lactate, particularly after exercise

•

en:increased csf and plasma gaba

•

en:increased transferrin saturation (>60%)

•

en:increased csf homovanillic acid (hva)

•

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

•

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

•

en:high sweat sodium and chloride

•

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

•

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

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:hyponatremia

•

en:hypocalcemia

•

en:hyperoxaluria

•

en:hyperinsulinemia

•

en:hyperglycemias, postprandial

•

en:hyperchloridura

•

en:homocystinuria

•

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

•

en:increased urinary 2-hydroxybutyrate

•

en:low copper and ceruloplasmin

•

en:increased urinary citric acid cycle intermediates

•

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

•

en:no evidence of intrauterine infection in mother or newborn

•

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

•

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

•

en:normal aldosterone

•

en:neonatal hypocalcemia

•

en:negative nitroblue tetrazolium (nbt) reduction test

•

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

•

en:mitochondria dna deletion

•

en:mildly elevated transaminases

•

en:mildly decreased serum creatinine

•

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

•

en:low rai (radioactive iodine) uptake

•

en:low csf creatinine

•

en:increased urinary free sialic acid excretion (n-acetylneuraminic acid, 5-20x normal) enlarged lysosomal vacuoles in lymphocytes and fibroblasts

•

en:high nonceruloplasmin-bound serum copper

•

en:low absolute lymphocyte count

•

en:low-to-normal csf lactate

•

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

•

en:loss of ciliary beat coordination

•

en:lactic acidemia (2p21del)

•

en:lactate pyruvate ratio normal

•

en:irregularly shaped sperm heads

•

en:intracellular accumulation of unesterified cholesterol

•

en:intermittent increase of urinary ethylmalonic acid

•

en:increased very-long chain fatty acids

•

en:increased urinary thiosulfate

•

en:increased urinary glycosphingolipids, particularly globotriaosylceramide

•

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

•

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

•

en:hematuria, gross and microscopic

•

en:albuminuria

•

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

•

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

•

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

•

en:decreased fibrinogen (in some patients)

•

en:decreased csf folate

•

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

•

en:decreased c3 activity

•

en:decreased beta-galactosidase activity

•

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

•

en:decreased activity of galactocerebrosidase

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:alpha-fetoprotein normal

•

en:adenylosuccinase deficiency (finding)

•

en:decreased neopterin and biopterin in csf

•

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

•

en:absent ch50 activity in complete c4 deficiency

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

en:abnormal transferrin isoelectric focusing (ief)

•

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

•

en:abnormal liver function tests (less common)

•

en:abnormal liver enzymes during illness

•

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

•

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

•

en:abnormal cholesterol homeostasis

•

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

•

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

•

en:decreased mitochondrial complex v assembly

•

en:decreased or absent gch1 activity

•

en:glycosuria (less common)

•

en:elevated 8(9)-cholestenol

•

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

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:fibrinogen decreased

•

en:female carriers show markedly skewed x inactivation

•

en:elevated total bilirubin

•

en:elevated serum transaminase levels

•

en:elevated plasma methionine (methioninemia)

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

en:elevated plasma acth

•

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

•

en:elevated alkaline phosphatase (in one patient)

•

en:dyslipidemia

•

en:decreased or absent pts activity

•

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

•

en:di- and trihydroxycholestanoic acid accumulation

•

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

•

en:dehydration

•

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

•

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

•

en:deficiency of fat-soluble vitamins

•

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

•

en:defect in mitochondrial and peroxisomal fission

•

en:decreased udp-glcnac

•

en:decreased transferrin increased serum iron

•

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

•

en:decreased or normal serum factor b

•

en:no hyperphenylalaninemia

•

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

•

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

•

en:increased serum prostaglandin e2

•

en:low cholesterol esterification rates

•

en:liver transaminases normal to slightly increased

•

en:lack of lysosomal inclusions in visceral organs

•

en:ketoacidosis

•

en:karyomegaly may be found in other visceral organs

•

en:isovaleric acidemia

•

en:incresased urinary pyruvate

•

en:increased urinary thymine

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:increased serum triiodothyronine (t3)

•

en:increased serum thrombopoietin may occur

•

en:increased serum s-adenosylmethionine

•

en:increased serum parathyroid hormone (pth)

•

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

•

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

•

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

•

en:increased long-chain acylcarnitine

•

en:increased il-6

•

en:increased free erythrocyte protoporphyrin

•

en:increased alpha-fetoprotein (1 patient)

•

en:impaired response to gm-csf

•

en:immediate (type i) skin test reactivity

•

en:i-cell disease

•

en:hypocalciuria or normocalciuria

•

en:hypocalcemia (male)

•

en:hyperuricuria

•

en:low density lipoprotein increased

•

en:low plasma free and total carnitine

•

en:hyperlipidemia

•

en:platelet factor 4 decreased

•

en:variable hyperlipidemia

•

en:platelet function test normal

•

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

•

en:tyrosinemia

•

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

•

en:severe amyloid angiopathy

•

en:serum homocysteine normal

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:reduced unsaturated serum cobalamin binding capacity

•

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

•

en:proteinuria in those with cystic kidneys

•

en:premature separation of centromeric heterochromatin

•

en:pink urine

•

en:low plasma tryptophan (inflammatory type b)

•

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

•

en:parathyroid hormone (pth) absent to low

•

en:normal serum folate levels

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:normal or increased serum phosphate

•

en:normal exocrine pancreatic function

•

en:neutropenia

•

en:myoglobinuria after exertion

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:mitochondrial malic enzyme reduced

•

en:marked hypobetalipoproteinemia

•

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

•

en:low serum levels of ketone bodies

•

en:hyperthreoninuria

•

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

•

en:hyperglycinemia

•

en:thyroid peroxidase defect

•

en:bicarbonaturia

•

en:argininosuccinic aciduria

•

en:antithrombin iii decreased

•

en:aminoaciduria (less common)

•

en:absent axonal flare response to intradermal histamine injection

•

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

•

en:abnormal oral glucose tolerance

•

en:abnormal liver enzymes, intermittent

•

en:very low igm

•

en:tyrosinemia (transient, resolves in infancy)

•

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

•

en:transaminitis

•

en:sweat test normal

•

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

•

en:structural abnormalities seen on chromosome analysis

•

en:serum testosterone decreased

•

en:serum lactate may be increased during encephalopathic exacerbations

•

en:serum ferritin normal

•

en:serum chloride level decreased (finding)

•

en:serum calcium normal

•

en:serum c-peptide and glucagon levels measurable

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:resistance to 1,25-dihydroxyvitamin d3

•

en:pseudohypertriglyceridemia in adult form

•

en:protein urine absent

•

en:hydroxyprolinuria

•

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

•

en:calciuria

•

en:premature chromosome condensation

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

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

•

en:homocystinuria (in some patients)

•

en:gonadotrophin increased

•

en:glycogen accumulation in both liver and muscle

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

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

•

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

•

en:elevated white blood cell cystine

•

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

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:elevated plasma insulin

•

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

•

en:elevated erythrocyte adenosine deaminase

•

en:hepatic argininosuccinase deficiency

•

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

•

en:dermatan and heparan sulfate excretion in urine

•

en:decreased urinary calcium and phosphate excretion

•

en:decreased sulfite oxidase activity

•

en:decreased serum complement factor h

•

en:decreased plasminogen activity

•

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

•

en:decreased glomerular filtration rate (gfr)

•

en:decreased fibroblast beta-hexosaminidase

•

en:decreased erythrocyte plasmalogen

•

en:decreased cholesterol (less common)

•

en:decreased asparagine levels (in some patients)

•

en:elevated 3-hydroxypropionic acid

•

en:microscopic hematuria

•

en:low leukocyte alkaline phosphatase activity

•

en:low urinary cyclic amp response to pth administration

•

en:normal liver histology

•

en:mildly elevated hepatic enzymes

•

en:mild eosinophilia may occur

•

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

•

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

•

en:normal leukocyte and platelet counts

•

en:low cd4+ count

•

en:low fasting glucose (in some patients)

•

en:increased urinary mannose-containing oligosaccharides

•

en:lower total cholesterol

•

en:leukotriene c4 synthetase deficiency

•

en:karyotype analysis normal finding

•

en:isovalericaciduria

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:increased urinary potassium

•

en:increased urinary homovanillic acid (hva)

•

en:increased urinary formiminoglutamic acid (figlu)

•

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

•

en:increased urinary catecholamines

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased tissue long-chain fatty acids

•

en:normal number of t and b lymphocytes

•

en:increased serum thyrotropin

•

en:polyploid sperm heads

•

en:normal or mildly increased serum creatine kinase

•

en:presence of vacuoles on muscle biopsy

•

en:increased serum creatine kinase (1 family)

•

en:abnormal nasal potential difference

•

en:abnormal eeg in 25% hospitalized patients

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:3-methylglutaric aciduria

•

en:thymic hormone decreased

•

en:serum osmolality decreased

•

en:serum corticosterone increased

•

en:serum calcitonin, increased

•

en:reduced ige levels

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

en:raised tsh level

•

en:presence of pc mrna

•

en:normal serum 25-hydroxyvitamin d3

•

en:positive urine dnph screening test

•

en:abnormal secretin test

•

en:platelet aggregation decreased

•

en:phytanic acid increased

•

en:phosphorylase kinase normal in muscle

•

en:panhypogammaglobulinemia

•

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

•

en:no metabolic abnormalities

•

en:no hematuria

•

en:no elevation of free fatty acids

•

en:normal urinary 17-ketosteroids

•

en:normal serum complement levels

•

en:normal serum bile acids

•

en:increased serum glycerol

•

en:elevated androstenedione and testosterone

•

en:increased serum and urinary 2-oxoglutarate

•

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

•

en:decreased tetrasialotransferrin levels

•

en:decreased telomere length in lymphocytes

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:decreased serum 25-hydroxyvitamin d

•

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

•

en:decreased glutamine in bodily fluids

•

en:decreased csf homovanillic acid (hva)

•

en:decreased complement factor d

•

en:decreased clot retraction

•

en:decreased activity of thymidine phosphorylase

•

en:decreased activity of the pdh phosphatase

•

en:decreased activity of 3-hydroxyacyl-coa dehydrogenase in various tissues (liver, muscle, fibroblasts)

•

en:coombs positive hemolytic anemia

•

en:deficiency of laminin in basement membranes

•

en:chromosomal mosaicism in cultured cells

•

en:chondroitin 4-, 6-sulfate excretion in urine

•

en:cd4+/cd8+ ratio is reversed

•

en:broad tissue deposition of amylopectin-like material

•

en:bone marrow hypoplasia (in some patients)

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

en:aldosterone concentration below normal

•

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

•

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

•

en:abnormal serum glycoproteins

•

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

•

en:absent dystrophin on muscle biopsy

•

en:defect in oxidative phosphorylation

•

en:deletion of chromosome 18p11.2

•

en:increased serum alanine

•

en:glutaric acidemia type 1

•

en:increased prevalence among the native american lumbee indians

•

en:increased plasma vldl, ldl

•

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

•

en:increased ige level

•

en:incomplete n-glycosylation of cellular proteins

•

en:igg deficiency

•

en:hypouricemia

•

en:hypocholesterolemia

•

en:hyperphosphatemia

•

en:hyperglutaminemia

•

en:hypercalciuria (in childhood)

•

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

•

en:galactosylation defects

•

en:disseminated intravascular coagulation

•

en:galactosuria

•

en:galactocerebroside beta-galactosidase deficiency in serum, leukocytes, and fibroblasts

•

en:frequent deletions of chromosome 9 in melanoma

•

en:fasting hypoglycemia (early in disease course)

•

en:exercise-induced myoglobinuria

•

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

•

en:elevated urinary delta-aminolevulinic acid

•

en:elevated serum iron and iron binding capacity

•

en:elevated plasma stigmasterol

•

en:elevated plasma galactose (galactosemia)

•

en:elevated plasma estrogen

•

en:elevated gastrin concentration

•

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

•

en:absence of cpt ii protein

•

en:glutaric aciduria

•

en:adrenocorticotropic hormone, increased

•

en:increased urinary neopterin

•

en:microsomal hmg-coa reductase decreased

•

en:low or undetectable c-peptide

•

en:low or absent follicle stimulating hormone (fsh)

•

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

•

en:long-chain ketonuria

•

en:iodide organification defect

•

en:increased urine vanillactic acid (vla)

•

en:increased urine oligosaccharides

•

en:increased urinary tricarboxylic acid intermediates

•

en:increased urinary sulfatide excretion

•

en:increased urinary propionyl glycine

•

en:increased urinary organic acids (in some patients)

•

en:increased urinary dicarboxylic acid, transient

•

en:mildly elevated hdl in heterozygotes

•

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

•

en:increased urinary creatine

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased triglycerides (less common)

•

en:increased total and conjugated bilirubin

•

en:increased serum osteocalcin

•

en:increased serum lysine (group b)

•

en:increased serum growth hormone levels

•

en:increased serum glutamine

•

en:increased serum creatine kinase, mild

•

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

•

en:increased plasma pristanic acid

•

en:mildly elevated creatine phosphokinase

•

en:mildly elevated urinary mevalonic acid

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

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

•

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

•

en:vacuolated lymphocytes

•

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

•

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

•

en:serum phosphate concentration below normal

•

en:serum carnitine deficiency

•

en:serum aldosterone elevated

•

en:reduced erythrocyte glucose/hexose transport

•

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

•

en:pt normal

•

en:proteinuria

•

en:positive urinary bratton-marshall test

•

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

•

en:mild elevation of cholesterol

•

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

•

en:paraproteinemia

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

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

•

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

•

en:normal to slightly elevated plasma cholesterol

•

en:normal serum biotin concentration

•

en:normal phytanic acid

•

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

•

en:normal lactate (hcs)

•

en:normal axonal flare response after intradermal histamine injection

•

en:myelin basic protein measurement, spinal fluid

•

en:increased lactate: pyruvate ratio (group b)

•

en:undetectable plasma dbh activity

•

en:increased iga level

•

en:decreased plasma esterified cholesterol

•

en:elevated plasma and urine succinylacetone

•

en:elevated free carnitine

•

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

•

en:elevated erythrocyte adenosine deaminase activity

•

en:elevated circulating parathyroid hormone (pth) level

•

en:elevated 7-dehydrocholesterol

•

en:dilated rough endoplasmic reticulum (rer)

•

en:decreased tissue and serum alkaline phosphatase

•

en:decreased serum iron (in some patients)

•

en:decreased serum factor h (atypical hus)

•

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

•

en:decreased plasma glycine

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:elevated plasma desmosterol

•

en:decreased or absent apolipoprotein a-i

•

en:decreased intracellular fmr protein

•

en:decreased iga, igg, igm

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

en:decreased activity of thiopurine s-methyltransferase

•

en:decreased activity of mitochondrial complex i

•

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

•

en:chondroitin 6-sulfate excretion in urine

•

en:bilirubin may or may not be increased

•

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

•

en:alkaline phosphatase normal

•

en:increased fas ligand

•

en:elevated plasma cholestanol

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:elevated plasma follicle stimulating hormone (fsh)

•

en:hypermagnesemia

•

en:increased csf taurine

•

en:increased csf protein during acute illness

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:increased csf interferon alpha

•

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

•

en:increased creatinine

•

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

•

en:immotile or weakly motile cilia

•

en:elevated pregnenolone

•

en:hyperoxalaemia

•

en:hypernatriuria

•

en:hypermethioninemia, progressive

•

en:hypogammaglobulinemia (in some patients)

•

en:hyperglycemia

•

en:enzyme replacement therapy has not been effective

•

en:elevated resting serum lactate, increased with exercise

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:hla-b27 haplotype association (95% patients)

•

en:elevated testosterone

•

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

•

en:elevated serum lactate

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:gaucher disease, type 1

•

en:hematuria, macroscopic and microscopic

•

en:high serum osmolality

•

en:high urinary copper

•

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

•

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

•

en:increased serum ige

•

en:increased serum triglycerides (in some patients)

•

en:increased thyroid-stimulating hormone (tsh)

•

en:iron low

•

en:increased urinary carnitine

•

en:increased urinary glutaric acid

•

en:intracellular pas-positive polyglucosan inclusion bodies ('lafora' bodies) can be found in various tissues (brain, liver, muscle, heart, skin)

•

en:kypokalemia

•

en:lack of excessive parenchymal iron storage

•

en:increased serum bilirubin (in some patients)

•

en:hypoglycosylated serum transferrin

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:increased plasma branched-chain fatty acids

•

en:increased peripheral blood monocytes

•

en:increased neopterin in urine and csf

•

en:increased il-8

•

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

•

en:increased ferritin

•

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

•

en:increased csf lactate

•

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

•

en:increased blood alanine

•

en:increased 18-ohb to aldosterone ratio

•

en:hypoalbuminemia

•

en:low or absent igm levels

•

en:normal igm levels

•

en:low plasma triglyceride level

•

en:normal serum erythropoietin (epo, 133170)

•

en:serum complement decreased

•

en:hypertriglyceridemia (in some patients)

•

en:serum acid phosphatase normal

•

en:reticulocyte count increased

•

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

•

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

•

en:prolonged activated partial prothrombin time (appt)

•

en:predominance of the d-stereoisomer

•

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

•

en:no increase of muscle lactate with ischemic exercise testing

•

en:no increased sensitivity to oxidative species

•

en:normal or mildly reduced serum cobalamin

•

en:low to normal plasma methionine

•

en:normal maltase, isomaltase, and sucrase activity

•

en:myoglobinuria after exertion (in some patients)

•

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

•

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

•

en:mildly prolonged bleeding time 10-12 minutes

•

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

•

en:methylmalonic aciduria, mild

•

en:median mean platelet volume (mpv) 20fl

•

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

•

en:lysosomal-like storage vacuoles in various tissues

•

en:low urinary orotic acid

•

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

•

en:hypertryptophanemia

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:hyperprolinemia (10-15 times normal)

•

en:decreased activity of mitochondrial complex ii (succinate dehydrogenase)

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased serum factor i (atypical hus)

•

en:decreased serum c3 (atypical hus)

•

en:decreased serum alpha-2 macroglobulin levels

•

en:decreased plasminogen antigen

•

en:decreased plasma gonadotrophin

•

en:decreased or absent serum ceruloplasmin

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased csf arginine

•

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

•

en:decreased activity of phosphoglycerate kinase 1

•

en:decreased activity of complement factor d

•

en:dermatan sulfate excretion in urine

•

en:cd4/cd8 ratio decreased

•

en:blood urea nitrogen increased

•

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

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:anti-iga antibodies commonly present

•

en:aneuploidy of the x chromosome

•

en:aminoaciduria (in some patients)

•

en:aminoaciduria, mild (in some patients)

•

en:abnormal liver enzymes, intermittent (1 patient)

•

en:3-methylglutaconic aciduria (3-mgc)

•

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

•

en:serum creatine kinase may be normal or elevated

•

en:defective bile acid metabolism

•

en:diffuse deposition of calcium oxalate in various tissues

•

en:hypercholesterolemia (reported in 2 patients)

•

en:elevated serum uric acid concentrations

•

en:homocysteinemia (in some patients)

•

en:high plasma asparagine

•

en:heteroplasmic partial duplication of mtdna

•

en:hepatic argininosuccinate synthetase deficiency

•

en:heparin cofactor ii deficiency (disorder)

•

en:hair bulb tyrosinase present

•

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

•

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

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:factor vii deficiency

•

en:eosinophilia

•

en:elevated urinary 3-methylglutarate

•

en:elevated serum parathyroid hormone (pth)

•

en:elevated 2-ketoglutarate (urine)

•

en:elevated serum alpha-fetoprotein

•

en:elevated serum acid phosphatase

•

en:elevated prothrombin time

•

en:elevated plasma citrulline (citrullinemia)

•

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

•

en:elevated plasma alloisoleucine

•

en:elevated liver transaminases

•

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

•

en:elevated dihydrobiopterin in csf

•

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

•

en:elevated ammonia

•

en:elevated alkaline phosphatase

•

en:serum creatine kinase may be increased

•

en:5-alpha-reductase-2 enzyme deficiency

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:median mean platelet volume (mpv) 18fl

•

en:markedly reduced igg levels

•

en:march myoglobinuria

•

en:low serum acth

•

en:low plasma arginine

•

en:low or normal serum erythropoietin

•

en:low or absent iga levels

•

en:low 25-oh-vitamin d level

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:ketonuria

•

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

•

en:increased urinary fumaric acid

•

en:mild-moderate prolonged bleeding time

•

en:increased serum methionine

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:increased plasma levels of bile acid intermediates

•

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

•

en:increased nasal-potential difference (some)

•

en:increased csf histidine

•

en:increased creatine kinase, mild to moderate

•

en:increased c10:2-carnitine

•

en:increased 11-deoxycorticosterone

•

en:immunoglobulin a decreased

•

en:igg, elevated

•

en:hypoproteinemia

•

en:microdeletion 22q11.2

•

en:mucopolysaccharidosis type iiid

•

en:hyperchloremia (mean 111 mm)

•

en:prolonged activated partial thromboplastin time (aptt)

•

en:beta-ketothiolase deficiency

•

en:tenascin x deficiency (serum and fibroblasts)

•

en:vitamin b12 deficiency (uncommon)

•

en:undetectable serum l-transferrin (homozygous patient)

•

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

•

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

•

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

•

en:serum lactate is usually normal

•

en:serum gastrin increased

•

en:serum calcium elevated

•

en:reticulocytosis

•

en:prolinuria

•

en:multiple autoantibodies

•

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

•

en:platelet glycoprotein iiia deficiency

•

en:persistent ebv viremia

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

en:patient cells show increased chromosome breakage

•

en:normal urinary pterins

•

en:normal to increased plasma glycine

•

en:normal serum parathyroid hormone (pth)

•

en:normal plasma total homocysteine

•

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

•

en:normal calcium (female)

•

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

•

en:hypercholesterolemia

•

en:vitamin k deficiency

•

en:homocystinemia

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

en:decreased fumarate hydratase activity

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:decreased cortisol-binding globulin

•

en:decreased c3 antigen

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:decreased apoa-i and apoa-ii

•

en:decreased agt activity

•

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

•

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

•

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

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

en:blood pyruvic acid increased

•

en:decreased numbers of t regulatory cells

•

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

•

en:azotemia

•

en:aspartylglycosaminuria

•

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

•

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

•

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

•

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

•

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

•

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

•

en:abacterial leukocyturia

•

en:very low iga

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:decreased methylmalonyl-coa mutase activity

•

en:urinary excretion of mucopolysaccharides

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

en:elevated 17-hydroxyprogesterone

•

en:galactosuria without galactosemia

•

en:galactosemia

•

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

•

en:fluorescence of red blood cells by uv microscopy

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:elevated serum parathyroid hormone (pth) level

•

en:elevated gamma-glutamyltransferase (ggt)

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:elevated cerebrospinal fluid (csf) protein

•

en:elevated afp (endodermal sinus tumor)

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

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

•

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

•

en:distal xp22.3 segmental monosomy

•

en:decreased renal calcium excretion

•

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

•

en:decreased serum leptin

•

en:decreased plasma apolipoprotein c-ii

•

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

•

en:diminished lymphocyte response to phytohemaglutinin

•

en:defect in retrograde intraflagellar transport in cilia

•

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

•

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

•

en:deficient efflux of intracellular cholesterol

•

en:heparan sulfate excretion in urine

•

en:hereditary factor x deficiency

•

en:hyperuricemia

•

en:high sweat electrolyte

•

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

•

en:hyperbilirubinemia in those with liver failure

•

en:hypercalciuria (in some patients)

•

en:hypercholesterolemia (in 75%)

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

en:hyperphenylalaninemia

•

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

•

en:increased plasma phytanic acid

•

en:hypoalbuminemia (in 83%)

•

en:hypoketotic hypoglycemia

•

en:hyponatremia in infancy

•

en:hypoxemia

•

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

•

en:impaired oxidation of pyruvate

•

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

•

en:increased biopterin in urine and csf

•

en:increased igg level

•

en:increased interleukin 10

•

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

•

en:increased plasma creatine

•

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

•

en:elevated propionate

•

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

•

en:elevated calcitonin

•

en:increased serum cholesterol (in 3 of 10 patients)

•

en:defect in chylomicron secretion

•

en:deficiency of serum properdin p factor

•

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

•

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

•

en:dhea sulfotransferase below limit of detection

•

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

•

en:direct hyperbilirubinemia

•

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

•

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

•

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

•

en:elevated hcg (choriocarcinoma)

•

en:glycogen storage disease type vi

•

en:elevated lathosterol

•

en:elevated sweat chloride

•

en:elevated urinary mevalonic acid

•

en:eosinophilia, mild

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:factor viii deficiency

•

en:fasting hyperinsulinemia

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:foam cells in bone marrow and renal glomeruli

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

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

•

en:increased renal tubular phosphate reabsorption

•

en:normal serum cobalamin (vitamin b12)

•

en:increased serum fgf23

•

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

•

en:normal urinary cyclic amp response to pth administration

•

en:no evidence of common prenatal infections

•

en:no evidence of perinatal infection

•

en:no hyperuricemia

•

en:pancreatic trypsinogen deficiency

•

en:plasma protein c deficiency

•

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

•

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

•

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

•

en:reduced beating amplitudes in cilia

•

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

•

en:serum bilirubin increased

•

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

•

en:serum c-reactive protein may be increased

•

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

•

en:shortened telomeres (in 1 of 2 patients)

•

en:some fragmented or disrupted golgi

•

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

•

en:transient neonatal hypocalcemia (2p21del)

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:tyrosine iodination defect

•

en:upregulation of alpha-interferon-stimulated genes

•

en:uric acid normal

•

en:very low leptin level

•

en:normal transferrin isoelectric profile

•

en:normal serum lipoprotein levels

•

en:increased serum lactate hydrogenase

•

en:intermittent 3-methylglutaconic aciduria

•

en:increased serum levels of free plasma thyroid hormones

•

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

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:increased urinary 3-methylglutaconic acid

•

en:increased urinary adenosine

•

en:increased urinary excretion of cystine

•

en:increased urinary hydroxyisovaleric acid

•

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

•

en:increased urinary malic acid

•

en:increased urinary succinic acid

•

en:increased urinary taurine

•

en:ketosis

•

en:normal serum and mucosal iga

•

en:lack of ciliary motility

•

en:low-to-normal platelet count

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:low serum calcium

•

en:low serum uric acid

•

en:low to low-normal magnesium

•

en:low urinary excretion of neutral 17-ketosteroids

•

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

•

en:medium chain dicarboxylic aciduria

•

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

•

en:nephrotic syndrome

•

en:normal-elevated plasma testosterone (male range)

•

en:decreased testosterone level

◀

Génériques

[F] [H]

›

en:increased

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6880912 • caches: c1=48 c2=1111 c3=43

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