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

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

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C1856982

Associations d'idées

[F]

›

1000

en:reduced serum uric acid

•

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

•

en:proteinuria

•

en:aprt deficiency measured in erythrocyte lysate

•

en:chromosomal mosaicism in cultured cells

•

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

•

en:elevated alkaline phosphatase (in one patient)

•

en:increased levels of carcinoembryonic antigen

•

en:increased plasma progastrin

•

en:hyperlactemia

•

en:saccharopine dehydrogenase deficiency

•

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

•

en:serum folate normal

•

en:increased tissue levels of triglycerides

•

en:factor viii deficiency

•

en:normal serum parathyroid hormone (pth)

•

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

•

en:abnormal columnization of chondrocytes

•

en:some cilia show central complex and radial spoke defects

•

en:normal extrarenal responses to ddavp administration

•

en:alkaline phosphatase decreased

•

en:anti-iga antibodies commonly present

•

en:cystathioninuria (lab finding)

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:elevated plasma campesterol

•

en:elevated prothrombin time

•

en:increased urinary 3-methylcrotonylglycine

•

en:increased urinary catecholamines

•

en:increased serum lactate

•

en:normal maltase, isomaltase, and sucrase activity

•

en:ceruloplasmin decreased

•

en:increased serum thyrotropin

•

en:increased 11-deoxycorticosterone

•

en:hepatic glycine cleavage defect

•

en:low free carnitine

•

en:absence of cpt ii protein

•

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

•

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

•

en:prolonged bleeding time

•

en:normal serum bile acids

•

en:lack of excessive parenchymal iron storage

•

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

•

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

•

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

•

en:elevated pyruvate (in most patients)

•

en:hypoprebetalipoproteinemia

•

en:increased serum s-adenosylmethionine

•

en:increased urinary lactate

•

en:infantile hypophosphatasia

•

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

•

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

•

en:increased plasma proglucagon

•

en:normal arterial oxygen saturation

•

en:parathyroid hormone (pth) absent to low

•

en:serum creatine kinase may be normal or increased

•

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

•

en:abnormal urinary organic acids

•

en:phytanic acid increased

•

en:normal serum cobalamin

•

en:normal serum phosphorus

•

en:antiribonuclear protein positive

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

en:decreased activity of mitochondrial respiratory complexes

•

en:decreased or absent serum ceruloplasmin

•

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

•

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

•

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

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

en:pcs involves most of all chromosomes of a metaphase

•

en:echocardiogram abnormal

•

en:mild-moderate prolonged bleeding time

•

en:hyperuricuria

•

en:absent dystrophin on muscle biopsy

•

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

•

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

•

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

•

en:adrenocorticotropic hormone, increased

•

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

•

en:abnormal acylcarnitine profiles

•

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

•

en:decreased fibroblast iduronate sulfatase

•

en:factor vii deficiency

•

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

•

en:increased urinary tiglylglycine

•

en:organic aciduria, mild (in some patients)

•

en:protein urine absent

•

en:decreased beta-thromboglobulin

•

en:decreased levels of plasma factor viii

•

en:elevated serum n,n-dimethylglycine (dmg)

•

en:euvolemia

•

en:gaucher disease, type 1

•

en:increased di- and asialo-transferrin

•

en:increased urinary 2-ketoglutarate (variable)

•

en:increased urinary hydroxyisovaleric acid

•

en:increased urinary o-linked sialopeptides

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

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

•

en:tenascin x deficiency (serum and fibroblasts)

•

en:relatively low urinary pge-m levels

•

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

•

en:serum osmolality decreased

•

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

•

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

•

en:increased urinary cortisol/cortisone ratio

•

en:decreased long-chain fatty acid oxidation

•

en:decreased beta-oxidation of pristanic acid

•

en:severely impaired ciliary motility

•

en:normal pyridinoline excretion in urine

•

en:abnormal nasal potential difference

•

en:decreased asparagine levels (in some patients)

•

en:decreased cholesterol (less common)

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:decreased fibroblast alpha-mannosidase

•

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

•

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

•

en:ketosis

•

en:serum creatine kinase 20-70 times normal

•

en:decreased activity of thiopurine s-methyltransferase

•

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

•

en:increased serum ferritin

•

en:increased serum direct bilirubin

•

en:hair bulb tyrosinase present

•

en:low or absent prolactin (pl)

•

en:elevated 2-ketoglutarate (urine)

•

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

•

en:decreased adiponectin

•

en:decreased activity of the pdh phosphatase

•

en:3-methylglutaric aciduria (3-mga)

•

en:low or absent growth hormone (gh)

•

en:abnormal urinary compounds

•

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

•

en:elevated hcg (choriocarcinoma)

•

en:serum and csf lactate may be increased

•

en:normal sweat chloride (3 of 3 patients)

•

en:increased 18-oxocortisol

•

en:hyponatremia in infancy

•

en:mildly increased serum lactate

•

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

•

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

•

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

•

en:serum calcium normal

•

en:phospholipid antibody positive

•

en:defect in chylomicron secretion

•

en:increased serum creatine kinase during episodes

•

en:methylmalonic acidemia

•

en:increased urinary sulfite

•

en:increased urinary magnesium

•

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

•

en:hypocalciuria

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:elevated csf glycine

•

en:albuminuria

•

en:serum acid phosphatase normal

•

en:mildly elevated transaminases

•

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

•

en:serum ammonia increased

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:3-methylglutaconic aciduria

•

en:organic aciduria

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:increased serum triglycerides (in some patients)

•

en:increased plasma free cholesterol

•

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

•

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

•

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

•

en:decreased serum factor h (atypical hus)

•

en:decreased natural killer cells

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:ketoses, metabolic

•

en:increased urinary acetoacetic acid

•

en:impaired platelet aggregation

•

en:increased urinary hypoxanthine

•

en:increased urinary ketones

•

en:increased very-long chain fatty acids

•

en:increased urinary n-acetylated amino acids

•

en:increased urine porphyrins at times

•

en:indirect bilirubin increased

•

en:ketonuria, acute

•

en:increased uric acid level

•

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

•

en:increased prevalence among the native american lumbee indians

•

en:increased serum pyruvate, mild

•

en:increased serum lactate (in some patients)

•

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

•

en:increased serum glutamine

•

en:increased serum bilirubin due to hemolysis

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

en:increased il1b increased soluble il2r

•

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

•

en:increased circulating renin level

•

en:increased blood alanine

•

en:increased 11-deoxycortisol

•

en:loss of ciliary beat coordination

•

en:liver phosphorylase kinase (phk) deficiency

•

en:partial deficiency of factor xi(c)

•

en:low alkaline phosphatase

•

en:normal transferrin saturation

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:proteinuria (type ii, congenital)

•

en:prolidase deficiency

•

en:positive kveim-siltzbach skin test

•

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

•

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

•

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

•

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

•

en:hypogammaglobulinemia, profound

•

en:occasionally mild elevation of csf protein

•

en:no ketosis

•

en:normal serum complement levels

•

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

•

en:normal sedimentation rate

•

en:normal red cell counts

•

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

•

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

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

en:mitochondria dna deletion

•

en:mild hypertriglyceridemia

•

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

•

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

•

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

•

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

•

en:low rai (radioactive iodine) uptake

•

en:immunoreactive pc protein

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:hypocalcemia

•

en:cerebrospinal fluid oligoclonal bands

•

en:decreased neopterin and biopterin in csf

•

en:decreased mitochondrial complex iii activity in muscle

•

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

•

en:decreased metabolism of thiopurine drugs

•

en:decreased dna excision repair

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

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

•

en:decreased activities of multiple sulfatases

•

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

•

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

•

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

•

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

•

en:decreased palmitate oxidation

•

en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria

•

en:absent or abnormal thyroglobulin

•

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

•

en:absent ch50 activity in complete c4 deficiency

•

en:absent alkyl-dhap synthase activity

•

en:absence of beta-ureidopropionase activity and protein in liver biopsy

•

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

•

en:abnormal n-glycosylation of transferrin

•

en:abnormal liver function tests (less common)

•

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

•

en:5-hiaa csf may be normal or decreased

•

en:reticulocyte count increased

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:decreased plasma lpl levels (in some patients)

•

en:hypernatremia

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

en:hyperlipoproteinemia type i

•

en:hyperchloremia (mean 109 mm)

•

en:hypercalcemia

•

en:hyperammonemia

•

en:hydrocortisone decreased

•

en:homozygous 122kb deletion 11p15-p14

•

en:homocitrullinuria

•

en:high sweat sodium and chloride

•

en:hematuria, gross and microscopic

•

en:granular osmiophilic deposits (grod) in cells

•

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

•

en:epstein-barr viraemia

•

en:decreased s-ado:saicar ratio

•

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

•

en:elevated fasting triglycerides

•

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

•

en:deficient fibroblast aicar-tf activity

•

en:defects in mitochondrial oxidative phosphorylation

•

en:defective mitochondrial respiratory enzyme activity

•

en:defective bile acid metabolism

•

en:decreased serum rt3

•

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

•

en:decreased serum factor i (atypical hus)

•

en:decreased serum b12 levels

•

en:decreased serum alpha-2 macroglobulin levels

•

en:reduced platelet glycoprotein ib complex

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:sce normal in heterozygotes

•

en:increased thyroid-stimulating hormone (tsh)

•

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

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:low or normal serum erythropoietin

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:low level of c4 and c2

•

en:little to absent aspartylglucosaminuria activity

•

en:isovaleric acidemia

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:increased urinary sulfatide excretion

•

en:increased urinary neopterin

•

en:increased serum lactate in acute stage

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:increased serum lactate during metabolic crisis

•

en:increased serum gm-csf

•

en:increased serum alanine (1 patient)

•

en:increased serum acylcarnitines

•

en:increased pristanic acid

•

en:increased phytanic acid in body tissues and fluids

•

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

•

en:increased iga level

•

en:increased csf taurine

•

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

•

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

•

en:immunoglobulin a decreased

•

en:median mean platelet volume (mpv) 18fl

•

en:mild elevation of cholesterol

•

en:hypoproteinemia

•

en:prolinuria

•

en:xanthine nephrolithiasis

•

en:secondary decrease of plasma free carnitine

•

en:vitamin b12 deficiency (uncommon)

•

en:very low leptin level

•

en:variable respiratory chain enzyme deficiency

•

en:urine odor, maple syrup

•

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

•

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

•

en:serum testosterone level normal

•

en:serum iron normal

•

en:serum homocysteine normal

•

en:serum carnitine deficiency

•

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

•

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

•

en:platelet glycoprotein iiia deficiency

•

en:platelet factor 4 decreased

•

en:platelet antibody positive

•

en:no c8 antigen detected

•

en:normal to mildly increased mucopolysacchariduria

•

en:normal serum phytanic and pristanic acid

•

en:normal serum biotin concentration

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:normal apoa-ii levels in homozygotes

•

en:normal-elevated plasma testosterone (male range)

•

en:myelin basic protein measurement, spinal fluid

•

en:multiple autoantibodies

•

en:hypoxemia

•

en:mild hyperammonemia

•

en:hypoglycorrhachia (low glucose in csf)

•

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

•

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

•

en:decreased numbers of t regulatory cells

•

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

•

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

•

en:decreased c3 antigen

•

en:decreased activity of ppt1

•

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

•

en:complex organic aciduria

•

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

•

en:axonemes show normal structure

•

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

•

en:widespread interstitial fibrosis (visceral organs)

•

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

•

en:vitamin d deficiency

•

en:variegated translocation mosaicism in cultured fibroblasts

•

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

•

en:urocanase deficiency

•

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

•

en:tyrosinemia (transient, resolves in infancy)

•

en:transient neonatal hypoglycemia (2p21del)

•

en:thyroid dyshormonogenesis 4

•

en:serum transaminase increased

•

en:hypogammaglobulinemia (in some patients)

•

en:serum iron low (finding)

•

en:serum bicarbonate increased

•

en:decreased plasma triglycerides

•

en:absent or severely reduced levels of serum immunoglobulins

•

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

•

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

•

en:hypercalciuria

•

en:hyperbilirubinemia in those with liver failure

•

en:high serum osmolality

•

en:hemoglobin decreased

•

en:hemizygous deletion at 4p16.3

•

en:hematuria, macroscopic and microscopic

•

en:glutaric aciduria

•

en:galactosuria without galactosemia

•

en:fibroblasts attach poorly

•

en:fasting ketosis

•

en:elevated white blood cell cystine

•

en:elevated urine ceramide levels

•

en:fluorescence of red blood cells by uv microscopy

•

en:hypercholesterolemia (in 75%)

•

en:deficiency of fructokinase

•

en:decreased serum free thyroxine

•

en:elevated sepiapterin in csf

•

en:decreased triiodothyronine level

•

en:decreased whole blood serotonin

•

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

•

en:deficiency of prolidase activity in erythrocytes, leukocytes, or fibroblasts

•

en:elevated erythrocyte adenosine deaminase

•

en:elevated lathosterol

•

en:elevated plasma insulin

•

en:decreased serum thiamine pyrophosphate

•

en:low serum levels of branched-chain amino acids

•

en:low or normal serum igm

•

en:low or undetectable insulin

•

en:low plasma citrulline

•

en:low or absent igm levels

•

en:myoglobinuria after exertion (in some patients)

•

en:low urinary orotic acid

•

en:median mean platelet volume (mpv) 12.5fl

•

en:median mean platelet volume (mpv) 20fl

•

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

•

en:nonketotic hypoglycemia

•

en:low absolute lymphocyte count

•

en:normal dermal hydroxylysine content

•

en:low maximal oxygen uptake on exercise testing

•

en:increased serum creatine kinase in patients with muscle involvement

•

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

•

en:intermittent increase of urinary ethylmalonic acid

•

en:increase urinary excretion of lysine, arginine, and ornithine

•

en:increased urinary homovanillic acid (hva)

•

en:increased urinary excretion of 4-hydroxybutyric acid (ghb)

•

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

•

en:increased urinary, plasma, and csf dihydrouracil

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased serum vitamin b12

•

en:increased serum methionine

•

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

•

en:increased serum c-reactive protein, episodic

•

en:increased rai (radioactive iodine) uptake

•

en:normal or decreased serum potassium

•

en:increased plasma 2-methylbutyrylcarnitine

•

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

•

en:laboratory abnormalities

•

en:normal to mildly increased serum creatine kinase

•

en:transaminitis

•

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

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:5-alpha-reductase-2 enzyme deficiency

•

en:4-hydroxyphenylpyruvic aciduria

•

en:4-hydroxyphenylactic aciduria

•

en:3-methylglutaric aciduria

•

en:vitamin b12 deficiency (in some patients)

•

en:very low iga

•

en:urine osmolarity decreased

•

en:urinary prostaglandin e

•

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

•

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

•

en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine

•

en:smooth muscle antibodies positive

•

en:no elevation of free fatty acids

•

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

•

en:serum thiamine is normal

•

en:serum cortisol elevated

•

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

•

en:reduced total and free carnitine in plasma and tissue

•

en:reduced erythrocyte gs activity

•

en:reduced bending capacity of cilia

•

en:reactive hypoglycemia

•

en:rapid radioactive iodide (rai) discharge after thiocyanate or perchlorate

•

en:raised tsh level

•

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

•

en:platelet count normal

•

en:parathyroid hormone-related peptide (pthrp) absent to low

•

en:no evidence of intrauterine infection in mother or newborn

•

en:increased csf lactate

•

en:adenylosuccinase deficiency (finding)

•

en:increased biliverdin in bodily fluids

•

en:cell studies show increased dna breakage

•

en:defect in dna repair

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:decreased red cell pyruvate kinase activity

•

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

•

en:decreased or absent dihydropteridine reductase activity

•

en:decreased ldl cholesterol

•

en:decreased grhpr activity

•

en:decreased glutamine in bodily fluids

•

en:decreased csf arginine

•

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

•

en:cystathioninemia

•

en:cilia show inner and outer dynein arm defects

•

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

•

en:cholesterol low

•

en:cd4+/cd8+ ratio is reversed

•

en:deficiency or absence of p22-phox protein

•

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

•

en:carnitine deficiency

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:antithrombin iii deficiency

•

en:alpha-fetoprotein normal

•

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

•

en:absent platelet agglutination in presence of ristocetin

•

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

•

en:abnormal igfr1 function

•

en:abnormal dystrophin on muscle biopsy

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:4-hydroxyphenyllactic aciduria

•

en:3-methylglutaconic aciduria (3-mgc)

•

en:absent igg2 subclass

•

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

•

en:elevated acth

•

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

•

en:hepatic argininosuccinate synthetase deficiency

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

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

•

en:iiga and igg antigliadin antibodies (aga)

•

en:hyponatremia

•

en:hypocalcemia (64% of adults)

•

en:hyperthreoninemia

•

en:hyperprolinemia type 1

•

en:hyperphosphatemia

•

en:hyperoxaluria

•

en:hyperkalemia

•

en:hyperglycolic aciduria

•

en:hla-dqw6 association (dqb1*0602)

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:high m-component

•

en:hb h erythrocyte inclusions

•

en:elevated biopterin in csf

•

en:glutathione deficiency

•

en:glucose-6-phosphate deficiency

•

en:fibroblasts show increased sensitivity to apoptosis

•

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

•

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

•

en:excessive iodide trapping

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

en:elevated urinary hyaluronic acid levels

•

en:elevated total bilirubin

•

en:elevated serum alpha-fetoprotein

•

en:elevated plasma stigmasterol

•

en:elevated il6

•

en:elevated erythrocyte aicar (zmp)

•

en:elevated dihydrobiopterin in csf

•

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

•

en:decreased serum iron (in some patients)

•

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

•

en:increased urinary isobutyryl glycine

•

en:low to low-normal magnesium

•

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

•

en:low ldl cholesterol

•

en:low csf creatine

•

en:low acth level

•

en:low-to-normal platelet count

•

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

•

en:leukocytosis

•

en:lack of lysosomal inclusions in visceral organs

•

en:intermittent severe hypoglycemia (in some patients)

•

en:incresased urinary pyruvate

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:increased urinary thymine

•

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

•

en:metachromasia of white blood cells and fibroblasts

•

en:increased urinary carnitine esters

•

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

•

en:increased susceptibility to ebv infection

•

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

•

en:increased serum manganese

•

en:increased serum lipoproteins

•

en:increased serum ige

•

en:increased serum ferritin (in some patients)

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:increased serum 1,25-dihydroxyvitamin d3

•

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

•

en:increased plasma renin activity

•

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

•

en:increased fractional excretion of uric acid

•

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

•

en:microdeletion 22q11.2

•

en:increased csf and plasma ghb

•

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

•

en:alkaline phosphatase normal

•

en:very low igg

•

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

•

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

•

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

•

en:tyrosinemia

•

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

•

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

•

en:serum thyroxine may be decreased or normal

•

en:serum prolactin increased

•

en:renin decreased

•

en:reduced iga

•

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

•

en:premature separation of centromeric heterochromatin

•

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

•

en:microduplication of chromosome 5p13

•

en:positive antinuclear antibody test

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

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

•

en:no mucopolysacchariduria

•

en:no chromosomal breakage

•

en:normal serum transferrin profiles

•

en:normal serum folate levels

•

en:normal plasma total homocysteine

•

en:normal male karyotype (46,xy)

•

en:normal free urinary cortisol

•

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

•

en:normal axonal flare response after intradermal histamine injection

•

en:neutrophilia, both basal and during infections

•

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

•

en:increased csf interferon alpha

•

en:reduced beating amplitudes in cilia

•

en:increased creatine kinase, mild to moderate

•

en:decreased circulating aldosterone level

•

en:decreased serum leptin

•

en:decreased scad activity

•

en:decreased or normal serum factor i

•

en:decreased or normal serum c3

•

en:decreased neopterin and biopterin in urine

•

en:decreased nasal nitric oxide

•

en:decreased mitochondrial nadp(h)

•

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

•

en:decreased levels of the e2 subunit protein

•

en:decreased intracellular fmr protein

•

en:decreased iga, igg, igm

•

en:decreased glomerular filtration rate (gfr)

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:decreased beta-mannosidase activity in plasma, fibroblasts, and leukocytes

•

en:defective (ca2+) mobilization in t cells

•

en:decreased agt activity

•

en:decreased adenosylcobalamin

•

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

•

en:decreased activity of 2-oxoacid dehydrogenases

•

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

•

en:cytoplasmic lamellar concentric inclusions

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

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

•

en:calciuria

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

en:beta-galactosidase deficiency in fibroblasts and white blood cells

•

en:argininosuccinic aciduria

•

en:anti-factor viii positive

•

en:increased chromosomal breakage

•

en:decreased testosterone level

•

en:creatine phosphokinase increased

•

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

•

en:hyperglycemia

•

en:increased alpha-fetoprotein (1 patient)

•

en:elevated afp (endodermal sinus tumor)

•

en:inappropriately normal or increased plasma hepcidin

•

en:impairment of urinary concentration

•

en:impaired response to gm-csf

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:hypokalemia during attacks

•

en:hypoglycemia, fasting

•

en:hypocalcemia, transient

•

en:hypertriglyceridemia, transient

•

en:hypernatriuria

•

en:hypermethioninemia, progressive

•

en:hyperkalemia during attacks

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

en:hypokalemia occurs during paralytic attacks

•

en:hyperbilirubinemia

•

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

•

en:homocystinuria (in some patients)

•

en:elevated plasma luteinizing hormone (lh)

•

en:elevated propionate

•

en:enzyme replacement therapy has not been effective

•

en:excessive urinary 5-oxo-l-proline

•

en:elevated serum iron

•

en:farber lipogranulomatosis

•

en:hepatic ornithine transcarbamylase deficiency

•

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

•

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

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:heparan sulfate excretion in urine

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:increased serum triiodothyronine (t3)

•

en:low serum alkaline phosphatase in heterozygotes

•

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

•

en:low serum magnesium

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

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

•

en:kypokalemia

•

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

•

en:increased urinary prostaglandin e2

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:low fasting glucose (in some patients)

•

en:increased serum alpha-mannosidase

•

en:increased serum thrombopoietin may occur

•

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

•

en:increased serum fgf23

•

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

•

en:increased serum arylsulfatase a.

•

en:increased serum alkaline phosphatase (in some patients)

•

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

•

en:increased plasma lactate

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:monoclonal gammopathy

•

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

•

en:increased lactate in spinal fluid

•

en:microtubule disorganization in some cilia

•

en:sterol 27-hydroxylase deficiency

•

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

•

en:shortened telomeres (classic feature, nola3 patient)

•

en:acylglycinuria

•

en:increased csf protein

•

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

•

en:abnormal karyotype in 3 patients involving distal 6p

•

en:urinary excretion of sialylated oligosaccharides

•

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

•

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

•

en:undetectable urinary hypoxanthine

•

en:tsh decreased

•

en:thrombocytopenia

•

en:t-lymphocytopenia

•

en:serum complement decreased

•

en:normal iga levels

•

en:serum calcitonin, increased

•

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

•

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

•

en:reduced ige levels

•

en:positive urine dnph screening test

•

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

•

en:phosphate normal

•

en:no hyperphenylalaninemia

•

en:normal serum liver enzymes

•

en:normal number of t and b lymphocytes

•

en:normal lysyl oxidase activity

•

en:increased il-8

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:increased cellular sensitivity to uv light

•

en:b lymphocytopenia

•

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

•

en:decreased circulating cortisol level

•

en:decreased beta-glucosidase protein and activity

•

en:decreased arylsulfatase a (arsa) activity in urine, leukocytes, fibroblasts

•

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

•

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

•

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 activity of complement factor d

•

en:creatine kinase normal between episodes

•

en:coombs positive hemolytic anemia

•

en:chylomicronemia, refractory fasting

•

en:broad tissue deposition of amylopectin-like material

•

en:decreased or absent gch1 activity

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

en:ballooned neurons

•

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

•

en:aminoaciduria

•

en:agammaglobulinemia

•

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

•

en:abnormal nuclear morphology

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:abnormal cardiolipin subspecies composition

•

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

•

en:anti-ssb positive

•

en:decreased monoamine oxidase a activity

•

en:decreased or absent steroid sulfatase activity

•

en:incomplete n-glycosylation of cellular proteins

•

en:fibrinogen decreased

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:hypermagnesiuria

•

en:hyperglutaminemia

•

en:hypercholesterolemia (disorder)

•

en:hyperchloremia (mean 114 mm)

•

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

•

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

•

en:hereditary fructose intolerance

•

en:hepatic lipase deficiency (disorder)

•

en:heparin cofactor ii deficiency (disorder)

•

en:glycoamino aciduria

•

en:eosinophilia

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:elevated serum levels of 2-prime deoxyadenosine

•

en:elevated serum acid phosphatase

•

en:elevated liver transaminases

•

en:elevated erythrocyte adenosine deaminase (eada)

•

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

•

en:di- and trihydroxycholestanoic acid accumulation

•

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

•

en:dehydration

•

en:decrease plasma serine (fasting)

•

en:decreased von willebrand factor

•

en:decreased tetrasialotransferrin levels

•

en:aminoaciduria, intermittent

•

en:decreased-absent intestinal mucosa lactase activity

•

en:antiphospholipid antibody

•

en:medium chain dicarboxylic aciduria

•

en:normal urinary cyclic amp response to pth administration

•

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

•

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 serum phosphate

•

en:normal lysl hydroxylase activity

•

en:normal activity of von willebrand factor-cleaving protease

•

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

•

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

•

en:mitochondrial malic enzyme reduced

•

en:microsomal hmg-coa reductase decreased

•

en:marked hypobetalipoproteinemia

•

en:no hyperuricemia

•

en:markedly increased serum creatine kinase

•

en:march myoglobinuria

•

en:lactate high

•

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

•

en:iron binding capacity total increased

•

en:intermittent ethylmalonic aciduria

•

en:increased urinary taurine

•

en:increased urinary methylcitrate

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

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

•

en:increased urinary creatine

•

en:normal urinary pterins

•

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

•

en:increased urinary 2-oxoglutaric acid

•

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

•

en:antithrombin iii decreased

•

en:aicardi-goutieres syndrome 1

•

en:undetectable plasma dbh activity

•

en:transferrin saturation increased

•

en:thyroid dyshormonogenesis 5

•

en:t-cell deficit

•

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

•

en:spongy degeneration of brain on histology

•

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

•

en:severe amyloid angiopathy

•

en:serum bilirubin increased

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:reduced erythrocyte glucose/hexose transport

•

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

•

en:primary immunoglobulin-related amyloidosis (al)

•

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

•

en:plasma aldosterone increased

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:phosphaturia may disappear after a long period of time

•

en:partial deficiency of factor xiii (less common)

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:pancreatic trypsinogen deficiency

•

en:orotic acid crystalluria

•

en:increased urinary and serum glycine

•

en:no dicarboxylic aciduria

•

en:increased tissue long-chain fatty acids

•

en:decreased fumarate hydratase activity

•

en:elevated testosterone

•

en:elevated serum parathyroid hormone (pth) level

•

en:elevated plasma ammonia

•

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

•

en:elevated circulating parathyroid hormone (pth) level

•

en:elevated androstenedione

•

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

•

en:diverse tissue cell types (vascular endothelial cells, adipocytes, schwann cells, leukocytes) have membrane-lined cytoplasmic vacuoles with amorphous and filamentous material

•

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

•

en:decreased serum vitamin a

•

en:decreased serum bun

•

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

•

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

•

en:decreased cortisol-binding globulin

•

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

•

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

•

en:decreased apoa-i and apoa-ii

•

en:cystathionine beta-synthase deficiency disease

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

en:cilia may also be static, with slow activity

•

en:chronic hypoxemia

•

en:increased serum pyruvate

•

en:borderline elevated low-density lipoprotein

•

en:fasting hyperinsulinemia

•

en:decreased thrombospondin

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:immediate (type i) skin test reactivity

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased serum deoxyuridine

•

en:increased serum creatine kinase in acute stage

•

en:increased serum citrulline (group b)

•

en:increased serum and urinary 2-oxoglutarate

•

en:increased serum acyl carnitines

•

en:increased plasma homogentisic acid (hga)

•

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

•

en:increased disialo- and asialotransferrin

•

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

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

en:increased fibroblast free sialic acid

•

en:hypoproteinemia due to hypercatabolism

•

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

•

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

•

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

•

en:hypoketotic hypoglycemia

•

en:glycosuria

•

en:green serum

•

en:hawkinsinuria

•

en:high sweat electrolyte

•

en:homocysteinemia

•

en:hyperlipoproteinemia type iib

•

en:hyperphosphatemia, transient

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:elevated serum lactate

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:elevated serum bile acids

•

en:elevated plasma desmosterol

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

en:elevated plasma propionylcarnitine

•

en:elevated plasma follicle stimulating hormone (fsh)

•

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

•

en:elevated levels of vitamin b12

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:high serum guanosine levels

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:fibroblasts show decreased mitochondrial complex v activity

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

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

•

en:galactosemia

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:glycogen storage disease type vi

•

en:glyoxalase deficiency

•

en:gonadotrophin increased

•

en:hematuria

•

en:hemophilia b

•

en:high urinary orotic acid

•

en:elevated crp

•

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

•

en:cytogenetic deletion of chromosome 19q13

•

en:elevated cerebrospinal fluid (csf) protein

•

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

•

en:hypergammaglobulinemia

•

en:coagulopathy (inr = 2.2 - 3.5)

•

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

•

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

•

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

•

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

•

en:decreased csf pyridoxal

•

en:decreased csf serine

•

en:decreased dermal hydroxylysine content

•

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

•

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

•

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

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

en:electron microscopy of foam cells shows lamellar inclusions

•

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

•

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

•

en:decreased plasma apolipoprotein c-ii

•

en:decreased plasma glycine

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:decreased serum haptoglobin

•

en:decreased sulfite oxidase activity

•

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

•

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

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:deficient efflux of intracellular cholesterol

•

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

•

en:hypercalciuria (in some patients)

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

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

•

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

•

en:normal baseline cortisol

•

en:normal igg levels

•

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

•

en:normal serum lipoprotein levels

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:occasional hypomagnesemia

•

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

•

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

•

en:pms show deficient oxidation of debrisoquine

•

en:protein total decreased

•

en:pt normal

•

en:reduced igg levels, particularly igg2 subclass

•

en:myoglobinuria after exertion

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:secondary decreases in complex i and iv activity

•

en:serum folate low

•

en:severely decreased palmitate oxidation

•

en:some cilia show abnormal beating patterns or immotility

•

en:thrombocytosis (in some patients)

•

en:thyroid hormone organification defect

•

en:transient hyperlipidemia

•

en:tryptophanuria

•

en:type 1 collagen overmodification

•

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

•

en:urine uric acid decreased

•

en:nephrotic syndrome

•

en:mild to moderate hyperammonemia

•

en:hyperprostaglandinuria

•

en:increased serum unconjugated bilirubin

•

en:hypocalcemia (male)

•

en:hypogammaglobulinemia

•

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

•

en:iga antiendomysial antibodies (ema)

•

en:igm deficiency

•

en:increased creatinine

•

en:increased csf lactate during acute episodes

•

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

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:increased serum bile acids

•

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

•

en:increased serum pyruvate in acute stage

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:low to very low hdl cholesterol

•

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

•

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

•

en:increased urinary excretion of cystine

•

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

•

en:increased urinary malic acid

•

en:increased urine oligosaccharides

•

en:iodide organification defect

•

en:low density lipoprotein increased

•

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

•

en:low plasma arginine

•

en:low plasma methionine

•

en:low serum acth

•

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

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Génériques

[F] [H]

›

en:increased

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6880769 • caches: c1=28 c2=1730 c3=8

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