Diko : en:decreased dermal hydroxylysine content

en:decreased dermal hydroxylysine content

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C1857027

Associations d'idées

[F]

›

1000

en:pipecolic acid accumulation.

•

en:oligospermia or azoospermia

•

en:low csf creatine

•

en:abnormal cholesterol homeostasis

•

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

•

en:decreased tetrasialo-transferrin

•

en:increased platelet aggregation with ristocetin

•

en:low or absent prolactin (pl)

•

en:mild elevation of transaminases

•

en:normal serum 25-hydroxyvitamin d3

•

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

•

en:plasma triglycerides increased

•

en:widespread interstitial fibrosis (visceral organs)

•

en:5-oxoprolinase deficiency

•

en:elevated erythrocyte aicar (zmp)

•

en:increased biliverdin in bodily fluids

•

en:increased csf pyruvic acid

•

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

•

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

•

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

•

en:hypogammaglobulinemia

•

en:rheumatoid factor positive (finding)

•

en:proteinuria (type ii, congenital)

•

en:increased urinary magnesium

•

en:abnormal fecal fat

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:decreased serum ferritin

•

en:decreased platelet derived growth factor

•

en:ballooned neurons

•

en:uremia

•

en:routine liver function tests normal

•

en:elevated long chain fatty acids

•

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

•

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

•

en:galactosuria

•

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

•

en:low 25-oh-vitamin d level

•

en:median mean platelet volume 13fl

•

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

•

en:t-cell deficit

•

en:upregulation of alpha-interferon-stimulated genes

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

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

•

en:normal dermal hydroxylysine content

•

en:ceruloplasmin decreased

•

en:reduced total and free carnitine in plasma and tissue

•

en:plasma aldosterone normal

•

en:normal to elevated total plasma carnitine

•

en:abnormal liver enzymes, intermittent (1 patient)

•

en:i-cell disease

•

en:elevated urinary ornithine, lysine, arginine

•

en:elevated bilirubin (bilirubinemia)

•

en:decreased phk activity in liver

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:cytogenetic deletion of chromosome 19q13

•

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

•

en:decreased csf arginine

•

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

•

en:increased urinary dicarboxylic acid, transient

•

en:elevated 8(9)-cholestenol

•

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

•

en:reduced beating amplitudes in cilia

•

en:pink urine

•

en:increased urinary taurine

•

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

•

en:hypogammaglobulinemia, profound

•

en:hyperglycinemia (1 patient)

•

en:hypercalciuria (in childhood)

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:elevated plasma campesterol

•

en:hyperglycolic aciduria

•

en:increased 11-deoxycorticosterone

•

en:median mean platelet volume (mpv) 20fl

•

en:increased serum triiodothyronine (t3)

•

en:increased free erythrocyte protoporphyrin

•

en:increased fractional excretion of uric acid

•

en:deficient efflux of intracellular cholesterol

•

en:gonadotrophin increased

•

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

•

en:elevated plasma propionylcarnitine

•

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

•

en:decreased levels of plasma factor viii

•

en:platelet count normal

•

en:normal number of t and b lymphocytes

•

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

•

en:presence of serum anti-lu3 antibodies

•

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

•

en:5-alpha-reductase-2 enzyme deficiency

•

en:very low leptin level

•

en:serum cholesterol low or normal

•

en:reduced unsaturated serum cobalamin binding capacity

•

en:normal to increased plasma glycine

•

en:markedly increased serum creatine kinase

•

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

•

en:increased cellular sensitivity to uv light

•

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

•

en:cytosolic phosphoenolpyruvate carboxykinase deficiency

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:abnormal lipid profile

•

en:lactate pyruvate ratio normal

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

en:fibroblasts attach poorly

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:increased chromosomal breakage

•

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

•

en:may have increased serum parathyroid hormone (pth)

•

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

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:ketosis

•

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

•

en:undetectable serum l-transferrin (homozygous patient)

•

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

•

en:decreased serum ceruloplasmin

•

en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria

•

en:decreased csf methyltetrahydrofolate (mthf)

•

en:hyperoxalaemia

•

en:normal maltase, isomaltase, and sucrase activity

•

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

•

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

•

en:decreased-absent intestinal mucosa lactase activity

•

en:hereditary angioedema

•

en:increased serum lactate (mild)

•

en:low or absent adrenocorticotropic hormone (acth)

•

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

•

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

•

en:positive antinuclear antibody test

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:increased serum aryl-sulfatase a (10-20x)

•

en:increased urinary n-acetylated amino acids

•

en:prolonged activated partial prothrombin time (appt)

•

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

•

en:low-to-normal csf lactate

•

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

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

en:elevated urine ceramide levels

•

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

•

en:skewed x-inactivation in females

•

en:serum thiamine is normal

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:abnormal liver enzymes (1 patient)

•

en:increased serum iduronate sulfatase

•

en:parathyroid hormone (pth) absent to low

•

en:markedly reduced igg levels

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

en:increased urinary creatine

•

en:normal calcium (female)

•

en:hyperlysinemia

•

en:hla-dqw6 association (dqb1*0602)

•

en:ethylmalonic aciduria

•

en:elevated sed rate

•

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

•

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

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:decreased plasma and urinary ornithine

•

en:dermatan and heparan sulfate excretion in urine

•

en:hyperlipidemia

•

en:increased plasma creatine

•

en:low absolute lymphocyte count

•

en:normal or mildly increased serum creatine kinase

•

en:decreased c3 antigen

•

en:decreased ldl cholesterol

•

en:decreased plasminogen activity

•

en:elevated liver enzymes

•

en:green urine

•

en:hyponatremia

•

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

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:normal lactate (hcs)

•

en:plasma ammonia not elevated

•

en:pms show deficient oxidation of debrisoquine

•

en:prolonged partial thromboplastin time (ptt)

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:glycoamino aciduria

•

en:increased serum bilirubin due to hemolysis

•

en:increased plasma pristanic acid

•

en:increased renal tubular phosphate reabsorption

•

en:increased serum acylcarnitines

•

en:increased serum alpha-mannosidase

•

en:increased urinary 3-oh-propionic acid

•

en:increased serum creatine kinase in patients with muscle involvement

•

en:increased serum direct bilirubin

•

en:increased serum lactate dehydrogenase (ldh)

•

en:increased urinary 2-methylacetoacetic acid

•

en:hypernatriuria

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased plasma and urinary pipecolic acid

•

en:hypoxemia

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:increased csf histidine

•

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

•

en:increased c10:2-carnitine

•

en:iga antiendomysial antibodies (ema)

•

en:hypophosphatemia (less common)

•

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

•

en:hypomethioninemia

•

en:hypokalemia occurs during paralytic attacks

•

en:hypoglycorrhachia (low glucose in csf)

•

en:hypocitraturia

•

en:hypocalcemia (male)

•

en:increased urinary glutaric acid

•

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

•

en:microtubule disorganization in some cilia

•

en:increased urinary orotic acid (in some patients)

•

en:hyperkalemia during attacks

•

en:partial deficiency of factor xi (less common)

•

en:organic aciduria, mild (in some patients)

•

en:no increased sensitivity to oxidative species

•

en:no hyperphenylalaninemia

•

en:normal sweat chloride (3 of 3 patients)

•

en:normal serum bile acids

•

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

•

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

•

en:normal blood lactate

•

en:normal aldosterone

•

en:neutral hyperaminoaciduria

•

en:myoglobinuria (reported in 1 patient)

•

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

•

en:methylmalonic aciduria, mild

•

en:increased urinary potassium

•

en:lysosomal-like storage vacuoles in various tissues

•

en:low urinary cyclic amp response to pth administration

•

en:low total serum protein

•

en:low rai (radioactive iodine) uptake

•

en:low plasma triglyceride level

•

en:low or normal serum igm

•

en:low or absent igm levels

•

en:lack of excessive parenchymal iron storage

•

en:karyotype analysis normal finding

•

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

•

en:increased urine porphyrins at times

•

en:increased urinary tiglylglycine

•

en:increased urinary prostaglandin e2

•

en:hyperlipoproteinemia type iib

•

en:excessive urinary 5-oxo-l-proline

•

en:hypercalciuria

•

en:decreased activity of tyrosine hydroxylase

•

en:decreased serum free thyroxine

•

en:decreased plasma triglycerides

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:decreased numbers of t regulatory cells

•

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

•

en:decreased methylmalonyl-coa mutase activity

•

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

•

en:decreased factor xi

•

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

•

en:decreased circulating cortisol level

•

en:decreased blood levels of cationic amino acids

•

en:decreased adiponectin

•

en:decreased activity of thymidine phosphorylase

•

en:defect in retrograde intraflagellar transport in cilia

•

en:cytogenetics - recombinant chromosome 8 characterized by duplication of 8q22.1-qter and deletion of 8pter-p23.1

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:coarse metachromatic granules in white blood cells

•

en:b lymphocytopenia

•

en:bilirubin conjugated increased

•

en:antineutrophil cytoplasmic antibody

•

en:aminoaciduria, mild (in some patients)

•

en:alkaline phosphatase decreased

•

en:adenylosuccinase deficiency (finding)

•

en:abnormal serum liver enzyme levels

•

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

•

en:2-oxoadipic aciduria

•

en:pcs involves most of all chromosomes of a metaphase

•

en:decreased switched memory b cells

•

en:deficiency of serum properdin p factor

•

en:homocysteinemia

•

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

•

en:high urinary copper

•

en:high sweat electrolyte

•

en:high plasma triglyceride levels

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:hereditary factor x deficiency

•

en:heparan sulfate excretion in urine

•

en:glyoxalase deficiency

•

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

•

en:generalized amyloid deposition

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

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

•

en:folate-dependent fragile site at xq28

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

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

•

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

•

en:elevated urinary phosphoethanolamine

•

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

•

en:elevated il1-beta

•

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

•

en:elevated hcg (choriocarcinoma)

•

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

•

en:elevated erythrocyte adenosine deaminase activity

•

en:elevated calcitonin

•

en:elevated blood spot hydroxybutyryl carnitine

•

en:elevated androstenedione

•

en:diminished lymphocyte response to phytohemaglutinin

•

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

•

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

•

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

•

en:absent 7-dehydrocholesterol

•

en:pentagastrin stimulation test

•

en:increased serum pyruvate

•

en:leukocytosis

•

en:lack of lysosomal inclusions in visceral organs

•

en:iron overload (in some patients)

•

en:intermittent severe hypoglycemia (in some patients)

•

en:intermittent 3-methylglutaconic aciduria

•

en:inner and outer dynein arm defects, variable

•

en:increased urine vanillactic acid (vla)

•

en:increased urinary organic acids (in some patients)

•

en:increased urinary neopterin

•

en:increased urinary carnitine esters

•

en:increased sodium-potassium pump activity

•

en:increased serum unconjugated bilirubin

•

en:increased serum gm-csf

•

en:low serum calcium

•

en:increased serum ferritin (in some patients)

•

en:increased serum bile acids

•

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

•

en:increased serum, urinary, and csf lysine

•

en:increased plasma branched-chain fatty acids

•

en:increased ige level

•

en:increased excretion of urobilinogen

•

en:increased erythrocyte sedimentation rate, episodic

•

en:increased disialotransferrin and asialotransferrin levels

•

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

•

en:immunoreactive pc protein

•

en:hypokalemia

•

en:hyperglutaminemia

•

en:low plasma methionine

•

en:metachromasia of white blood cells and fibroblasts

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:serum iron normal

•

en:variable respiratory chain enzyme deficiency

•

en:phosphorylase kinase normal in muscle

•

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

•

en:urinary excretion of retinol-binding proteins (rbp) and vitamin d-binding proteins (dbp)

•

en:undetectable plasma dbh activity

•

en:tyrosinemia

•

en:transient hyperlipidemia

•

en:transcobalamin ii deficiency

•

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

•

en:thyroid hormone organification defect

•

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

•

en:some fragmented or disrupted golgi

•

en:shortened telomeres (in 1 of 2 patients)

•

en:serum creatine kinase 20-70 times normal

•

en:mucopolysaccharidosis type iiid

•

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

•

en:secondary decreases in complex i and iv activity

•

en:proper antibody response to protein vaccinations

•

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

•

en:phytanic acid accumulation

•

en:phosphaturia may disappear after a long period of time

•

en:organic aciduria

•

en:no ketonuria

•

en:no chromosomal breakage

•

en:normal csf 5-hiaa

•

en:normal baseline cortisol

•

en:neutropenia

•

en:multiple tissue biopsies show lysosomal storage disease

•

en:homocysteinemia (in some patients)

•

en:low or absent luteinizing hormone (lh)

•

en:heteroplasmic partial duplication of mtdna

•

en:type iii collagen defect

•

en:cerebrospinal fluid lymphocytosis

•

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

•

en:calciuria

•

en:anomalies of cholesterol levels

•

en:androgens increased

•

en:acute hyperammonemia

•

en:absence of peroxidase staining in neutrophils and monocytes

•

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

•

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

•

en:'rectilinear profiles' ultrastructurally in cells

•

en:udp-galactose-4-epimerase deficiency in all cells ('generalized' or 'severe' form)

•

en:tyrosinemia (transient, resolves in infancy)

•

en:thyroid dyshormonogenesis 4

•

en:decreased activity of thiopurine s-methyltransferase

•

en:thrombocytopenia (33-120 x 10(9)/l)

•

en:subtelomeric deletion of chromosome 16p

•

en:submucosal macrophages filled with sphingolipids

•

en:some increase in monosialo- and trisialotransferrin (type 1/2 pattern)

•

en:serum prolactin decreased

•

en:serum lactate may be increased during encephalopathic exacerbations

•

en:serum ferritin normal

•

en:serum calcium normal

•

en:serum calcitonin, increased

•

en:reduced platelet glycoprotein ib complex

•

en:hemizygous deletion at 7q11.23

•

en:reduced erythrocyte gs activity

•

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

•

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

•

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

•

en:decreased activity of triosephosphate isomerase

•

en:elevated acth

•

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

•

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

•

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

•

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

•

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

•

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

•

en:elevated serum uric acid concentrations

•

en:elevated serum phosphate in heterozygotes

•

en:elevated pyruvate (in most patients)

•

en:elevated plasma citrulline (citrullinemia)

•

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

•

en:elevated gastrin concentration

•

en:elevated alkaline phosphatase

•

en:elevated plasma acth

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:decreased mitochondrial complex iii activity (in fibroblasts of 1 patient)

•

en:decreased csf ferritin despite normal serum ferritin levels

•

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

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:decreased hexokinase activity in red blood cells

•

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

•

en:decreased csf serine

•

en:glycogen storage disease type vii

•

en:decreased serum factor b (atypical hus)

•

en:decreased tetrasialotransferrin levels

•

en:defects in mitochondrial oxidative phosphorylation

•

en:decreased secretion of igf1 in response to gh administration

•

en:increased urinary ketones

•

en:increased serum uric acid

•

en:increased urinary 3-methylcrotonylglycine

•

en:increased urinary dihydropyrimidines

•

en:increased urinary homovanillic acid (hva)

•

en:kypokalemia

•

en:infantile hypophosphatasia

•

en:in untreated patients - elevated blood galactose urine reducing substances (galactosuria), hyperchloremic metabolic acidosis, aminoaciduria, elevated liver enzymes, albuminuria

•

en:ketonuria, acute

•

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

•

en:ketoses, metabolic

•

en:increased serum lysine (group b)

•

en:isovalerylglycinuria

•

en:increased fas ligand

•

en:increased serum lactate (patient a)

•

en:increased serum lactate (in some patients)

•

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

•

en:increased serum ferritin

•

en:increased serum creatine kinase during episodes

•

en:increased serum creatine kinase (less common)

•

en:increased serum and csf lactate

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:increased plasma homogentisic acid (hga)

•

en:increased phytanic acid in body tissues and fluids

•

en:increased iga level

•

en:long-chain dicarboxylic aciduria

•

en:increased erythropoietin

•

en:increased csf interferon alpha

•

en:liver enzymes abnormal

•

en:reduced ferrochelatase activity

•

en:low-normal igm

•

en:orotic aciduria

•

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

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:rhabdomyolysis in response to alcohol

•

en:reduced erythrocyte adenosine deaminase activity

•

en:pseudohypertriglyceridemia in adult form

•

en:prothrombin time low

•

en:presence of vacuoles on muscle biopsy

•

en:presence of cytochrome b(-245)

•

en:polycythemia

•

en:platelet function test normal

•

en:plasma catecholamines decreased

•

en:parathyroid hormone level increased

•

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

•

en:no metabolic abnormalities

•

en:low growth hormone levels

•

en:normal sedimentation rate

•

en:normal red cell counts

•

en:normal plasma and tissue carnitine

•

en:normal or increased serum phytanic acid

•

en:normal leukocyte and platelet counts

•

en:normal ciliary structure and function

•

en:monoclonal gammopathy

•

en:mildly prolonged bleeding time 10-12 minutes

•

en:mildly elevated hepatic enzymes

•

en:low serum levels of branched-chain amino acids

•

en:low serum ceruloplasmin

•

en:low serum alkaline phosphatase in heterozygotes

•

en:low or normal serum calcium

•

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

•

en:increased csf immunoglobulin levels

•

en:abnormal liver function tests during pregnancy, resolves postpartum

•

en:increased creatinine

•

en:decreased activity of phosphoglycerate kinase 1

•

en:decreased serum acth

•

en:decreased plasma total and free carnitine

•

en:decreased or absent serum citrulline

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

en:decreased neopterin and biopterin in urine

•

en:decreased iga, igg, igm

•

en:decreased glycerol kinase activity

•

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

•

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

•

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

•

en:decreased activity of the pdh phosphatase

•

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

•

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

•

en:decreased serum factor h (atypical hus)

•

en:decreased activity of galactocerebrosidase

•

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

•

en:contiguous gene deletion syndrome

•

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

•

en:bone marrow hypoplasia (in some patients)

•

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

•

en:at least 2 complementation groups

•

en:aminoaciduria (in some patients)

•

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

•

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

•

en:abnormal dystrophin on muscle biopsy

•

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

•

en:thymic hormone decreased

•

en:decreased serum androgens

•

en:decreased serum iga

•

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

•

en:elevated serum transaminases during infections

•

en:increased 18-oxocortisol

•

en:immotile or weakly motile cilia

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:hypercholesterolemia (in 75%)

•

en:hyperbilirubinemia in those with liver failure

•

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

•

en:hyperbilirubinemia

•

en:hyperammonemia after protein intake

•

en:high serum guanosine levels

•

en:high plasma citrulline (100-300 micromolar)

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:fasting ketosis

•

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

•

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

•

en:decreased serum luteinizing hormone (lh)

•

en:elevated serum lactate

•

en:elevated pregnenolone

•

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

•

en:elevated mchc

•

en:elevated ferritin l subunit

•

en:elevated fasting glucose

•

en:elevated erythrocyte sedimentation rate (esr)

•

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

•

en:elevated afp (endodermal sinus tumor)

•

en:echocardiogram abnormal

•

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

•

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

•

en:decreased testosterone level

•

en:decreased sulfite oxidase activity

•

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

•

en:duplication or deletion at 11p15.5

•

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

•

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

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:iron binding capacity total increased

•

en:increased urinary s-sulfocysteine

•

en:increased urinary propionyl glycine

•

en:increased urinary l-glycerate

•

en:increased urinary glycerol

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:increased urinary 2-butanone

•

en:increased serum thyrotropin

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:increased prevalence among the native american lumbee indians

•

en:increased plasma phospholipids

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:increased histidine in blood, urine, and csf

•

en:low or normal serum erythropoietin

•

en:increased gamma-interferon

•

en:increased csf protein

•

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

•

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

•

en:increased circulating renin level

•

en:increased blood alanine

•

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

•

en:increased 18-ohb to aldosterone ratio

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:hypertryptophanemia

•

en:hyperprolinemia (10-15 times normal)

•

en:hyperoxaluria

•

en:hypernatremia

•

en:low or absent iga levels

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:hyperglycemias, postprandial

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:unresponsive to acth stimulation

•

en:xanthine nephrolithiasis

•

en:urine cortisol, increased

•

en:type 1 collagen overmodification

•

en:shortened telomeres (1 patient)

•

en:serum phosphate concentration below normal

•

en:serum cortisol decreased

•

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

•

en:schirmer test shows alacrima

•

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

•

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

•

en:reduced igg levels, particularly igg2 subclass

•

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

•

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

•

en:lysine-ketoglutarate reductase deficiency

•

en:normal tyrosinase

•

en:normal to mildly increased mucopolysacchariduria

•

en:normal serum phytanic and pristanic acid

•

en:normal serum lipoprotein levels

•

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

•

en:normal phytanic acid

•

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

•

en:normal igg levels

•

en:normal exocrine pancreatic function

•

en:normal eosinophil peroxidase activity

•

en:multiple autoantibodies

•

en:monomeric igm

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:medium chain dicarboxylic aciduria

•

en:hypermagnesiuria

•

en:serum ferritin hyperglycosylation

•

en:high sweat sodium and chloride

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:decreased b cells

•

en:decreased activity of mitochondrial respiratory chain complex i

•

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

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

en:cystathionine beta-synthase deficiency disease

•

en:creatine phosphokinase increased

•

en:cellular arrest at g2 of the cell cycle

•

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

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

en:bleeding time normal

•

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

•

en:atrial abnormalities on electrocardiogram

•

en:antiphospholipid antibody

•

en:aminoaciduria, intermittent

•

en:decreased cortisol-binding globulin

•

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

•

en:absence of hepatic udp-glucuronyl-transferase

•

en:absence of cpt ii protein

•

en:absence of cd59 expression on red cells

•

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

•

en:abnormal liver enzymes, intermittent

•

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

•

en:3-methylglutaconic aciduria

•

en:very low iga

•

en:very long chain fatty acid accumulation

•

en:urocanase deficiency

•

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

•

en:high sister chromatid exchange (sce) rate

•

en:decreased circulating renin level

•

en:2-aminoadipic aciduria

•

en:decreased dna excision repair

•

en:elevated plasma phytanic acid

•

en:high nonceruloplasmin-bound serum copper

•

en:decreased fibroblast iduronate sulfatase

•

en:hepatic lipase deficiency (disorder)

•

en:granular osmiophilic deposits (grod) in cells

•

en:glutathione deficiency

•

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

•

en:foam cells in visceral organs and cns

•

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

•

en:fibronectin decreased

•

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

•

en:elevated urinary epinephrine

•

en:elevated urinary delta-aminolevulinic acid

•

en:elevated urinary 2-ethylhydracrylate

•

en:hepatic gamma-cystathionase deficiency

•

en:disorganized growth plate cartilage

•

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

•

en:decreased galactokinase activity

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:dermatan sulfate excretion in urine

•

en:decreased or absent dihydropteridine reductase activity

•

en:decreased phgdh activity (fibroblasts)

•

en:high serum inosine levels

•

en:decreased plasma serine

•

en:decreased plasma zinc levels

•

en:decreased respiratory chain complex iii activity in multiple tissues

•

en:decreased t cells

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:decreased telomere length in lymphocytes

•

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

•

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

•

en:low alkaline phosphatase

•

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

•

en:low serum magnesium

•

en:median mean platelet volume (mpv) 12.5fl

•

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

•

en:marked elevation of erythrocyte sedimentation rate

•

en:mildly elevated blood ammonia

•

en:neonatal hypocalcemia

•

en:normal arterial oxygen saturation

•

en:normal constitutional karyotype

•

en:isovalericaciduria

•

en:increased urinary sulfite

•

en:iron low

•

en:increased serum creatine kinase, mild

•

en:increased urinary sialylglycopeptides

•

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

•

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

•

en:increased urinary citric acid cycle intermediates

•

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

•

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

•

en:increased total and conjugated bilirubin

•

en:increased soluble il2 receptor

•

en:increased serum parathyroid hormone (pth)

•

en:normal iga levels

•

en:increased serum growth hormone levels

•

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

•

en:serum albumin low result

•

en:normal igm levels

•

en:serum triglycerides increased

•

en:type i, classic, decreased antithrombin iii levels

•

en:increased serum arylsulfatase a.

•

en:triglyceride decreased

•

en:translocation between 18q21 and 14q32

•

en:transferase deficiency galactosemia

•

en:thyroid peroxidase defect

•

en:sterol 27-hydroxylase deficiency

•

en:smooth muscle antibodies positive

•

en:shortened telomeres (classic feature, nola3 patient)

•

en:severe hypernatremia in neonatal period

•

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

•

en:serum phosphate normal

•

en:normal plasma renin

•

en:serum iron raised

•

en:resistance to 1,25-dihydroxyvitamin d3

•

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

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

en:protein urine absent

•

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

•

en:pipecolic acidemia

•

en:phytanic acid increased

•

en:partial deficiency of factor xiii(c)

•

en:partial deficiency of factor xi(c)

•

en:no chromosome breakage

•

en:normal serum phosphorus

•

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

•

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

•

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

•

en:cells show increased sensitivity to ionizing radiation

•

en:decreased serum thyroxine (t4)

•

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

•

en:decreased plasma apolipoprotein c-ii

•

en:decreased or normal serum c3

•

en:decreased mucosal alkaline phosphatase

•

en:decreased erythrocyte plasmalogen

•

en:decreased decr enzyme activity

•

en:decreased csf homovanillic acid (hva)

•

en:decreased activity of mitochondrial respiratory complexes

•

en:cystathioninuria (lab finding)

•

en:chronic hypercapnia

•

en:chromosomal mosaicism in cultured cells

•

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

•

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

•

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

•

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

•

en:anti-iga antibodies commonly present

•

en:aminoaciduria (rare)

•

en:alpha-fetoprotein normal

•

en:absent platelet agglutination in presence of ristocetin

•

en:absent axonal flare response after intradermal histamine injection

•

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

•

en:abnormal liver enzymes during illness

•

en:4-hydroxyphenylacetic aciduria

•

en:3-methylglutaconic aciduria (3-mgc)

•

en:variable defects of inner dynein arms

•

en:defect in n- and o-glycosylation

•

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

•

en:increased csf and plasma ghb

•

en:elevated testosterone

•

en:immunoglobulin a decreased

•

en:immediate (type i) skin test reactivity

•

en:hypoproteinemia due to hypercatabolism

•

en:hypocalciuria or normocalciuria

•

en:hyperthreoninuria

•

en:hyperprostaglandinuria

•

en:hydroxyprolinuria

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:fragmentation of the mitochondrial network

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:ferritin decreased

•

en:eosinophilia, mild

•

en:elevated serum transferrin saturation

•

en:direct hyperbilirubinemia

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

en:elevated pth (parathyroid hormone)

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated plasma insulin

•

en:elevated plasma cholestanol

•

en:elevated lathosterol

•

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

•

en:elevated alpha-ketoglutarate (in most patients)

•

en:elevated 8-dehydrocholesterol

•

en:elevated 3-hydroxypropionic acid

•

en:elevated 17-hydroxyprogesterone

•

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

•

en:undetectable urinary hypoxanthine

•

en:decreased fibrinogen (in some patients)

•

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

•

en:increased urinary excretion of cystine

•

en:low serum igg and iga

•

en:low or undetectable c-peptide

•

en:low cholesterol esterification rates

•

en:low-to-normal platelet count

•

en:long-chain ketonuria

•

en:liver transaminases normal to slightly increased

•

en:little to absent aspartylglucosaminuria activity

•

en:isochromosome often missing in lymphocyte

•

en:increased urine oligosaccharides

•

en:increased urinary tricarboxylic acid intermediates

•

en:increased urinary fumaric acid

•

en:increased urinary 2-oxoglutaric acid

•

en:microduplication of chromosome 5p13

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased transferrin saturation (>60%)

•

en:increased tissue levels of triglycerides

•

en:increased serum triglycerides (in some patients)

•

en:increased serum serotonin in 25%

•

en:increased serum s-adenosylhomocysteine

•

en:increased serum creatine kinase in acute stage

•

en:increased serum creatine kinase (patient a)

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

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

•

en:increased lysine in serum and csf

•

en:increased igm level

•

en:mean platelet volume (mpv) 12.6fl

•

en:mildly elevated acth

•

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

•

en:4-hydroxyphenylactic aciduria

•

en:very low igg

•

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

•

en:t cells may be increased or decreased

•

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

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:serum mitochondrial autoantibodies

•

en:serum gastrin increased

•

en:serum creatine kinase may be normal

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:round, yellow-brown dha urine crystals

•

en:reticulocytosis

•

en:pyruvate-induced insulin secretion

•

en:plasma protein c deficiency

•

en:mildly elevated hdl in heterozygotes

•

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

•

en:parathyroid hormone normal

•

en:normal urinary pterins

•

en:normal serum transferrin profiles

•

en:normal serum folate levels

•

en:normal or mildly reduced sphingomyelinase activity

•

en:normal lysl hydroxylase activity

•

en:normal growth hormone responses to arginine, l-dopa, and propranolol stimulation

•

en:normal-elevated plasma testosterone (male range)

•

en:neonatal hyperbilirubinemia

•

en:myoglobinuria with extreme exertion

•

en:mild hyperammonemia

•

en:incomplete n-glycosylation of cellular proteins

•

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

•

en:igg deficiency

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

en:decreased plasma total cholesterol

•

en:decreased plasma free carnitine

•

en:decreased or increased serum testosterone

•

en:decreased or absent steroid sulfatase activity

•

en:decreased or absent histidase activity

•

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

•

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

•

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

•

en:decreased free t(3)/free t(4)

•

en:decreased csf glycine

•

en:decreased axonal flare response after intradermal histamine injection

•

en:decreased activity of ppt1

•

en:decreased serum trypsinogen

•

en:decreased activity of nadph oxidase

•

en:decreased activity of 2-oxoacid dehydrogenases

•

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

•

en:cytoplasmic lamellar concentric inclusions

•

en:cutaneous anergy

•

en:chondroitin 6-sulfate excretion in urine

•

en:anti-factor viii positive

•

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

•

en:aldosterone level increased above normal

•

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

•

en:abnormal karyotype in 3 patients involving distal 6p

•

en:iduronate sulfatase deficiency in fibroblasts, amniocytes and white blood cells

•

en:decreased serum haptoglobin (in some patients)

•

en:continuous urinary iodine loss

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:eosinophilia

•

en:hypoprebetalipoproteinemia

•

en:decreased uros activity (1 patient)

•

en:hypocalcemia

•

en:hyperkalemia

•

en:hyperchloridura

•

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

•

en:hb h erythrocyte inclusions

•

en:globulin gamma serum plasma increased result

•

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

•

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

•

en:factor vii deficiency

•

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

•

en:homocitrullinuria

•

en:elevated urinary pge(2) levels

•

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

•

en:elevated serum iron and iron binding capacity

•

en:decreased von willebrand factor

•

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

•

en:disseminated intravascular coagulation

•

en:direct coombs test negative

•

en:elevated 3-methylcitric acid

•

en:elevated biopterin in csf

•

en:elevated csf/plasma glycine ratio

•

en:elevated plasma methionine (methioninemia)

•

en:elevated serum alpha-fetoprotein

•

en:deficiency of laminin in basement membranes

•

en:hyperuricosuria

•

en:hypoalbuminemia

•

en:increased csf glycine

•

en:hypocalcemia (64% of adults)

•

en:hypokalemia during periodic paralysis (most patients)

•

en:hypoproteinemia (in 1 patient)

•

en:impaired mitochondrial translation

•

en:increased 11-deoxycortisol

•

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

•

en:increased serum acylcarnitine during febrile crisis

•

en:increased ferritin

•

en:increased free cyanocobalamin in fibroblasts

•

en:increased il-8

•

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

•

en:increased serum gamma-ggt (231950)

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

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

•

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

•

en:hyperlactemia

•

en:increased total bilirubin may occur

•

en:hyperthreoninemia

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:hypercholesterolemia (reported in 2 patients)

•

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

•

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

•

en:elevated plasma stigmasterol

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:elevated urine unsulfated chondroitin sulfate

•

en:excessive iodide trapping

•

en:fasting chylomicronemia

•

en:fasting hypoglycemia (early in disease course)

•

en:fibrinogen decreased

•

en:fucosidosis

•

en:hypercholesterolemia (disorder)

•

en:fumarase deficiency

•

en:gm2-ganglioside accumulation

•

en:hair bulb tyrosinase present

•

en:heparin cofactor ii deficiency (disorder)

•

en:hereditary fructose intolerance

•

en:high plasma asparagine

•

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

•

en:hydrocortisone decreased

•

en:hyperammonemia, episodic

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:reduced erythrocyte glucose/hexose transport

•

en:increased urinary methylcitrate

•

en:serum lactate is usually normal

•

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

•

en:protein total decreased

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

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

•

en:serum and csf lactate may be increased

•

en:serum calcium elevated

•

en:serum carnitine deficiency

•

en:serum copper decreased

•

en:serum testosterone level normal

•

en:phosphaturia

•

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

•

en:slightly increased serum alkaline phosphatase may occur

•

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

•

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

•

en:thyroid dyshormonogenesis 3

•

en:tryptophanuria

•

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

•

en:vitamin b12 deficiency (uncommon)

•

en:ehlers-danlos syndrome, type vi

•

en:premature separation of centromeric heterochromatin

•

en:pancreatic trypsinogen deficiency

•

en:increased urinary oxylate

•

en:mitochondrial complex i deficiency in muscle

•

en:increased urinary urate

•

en:liver function tests normal

•

en:low-molecular-weight proteinuria

•

en:low level of c4 and c2

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low serum acth

•

en:low serum levels of ketone bodies

•

en:lysyl hydroxylase deficiency

•

en:mild to moderate hyperammonemia

•

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

•

en:orotic acid crystalluria

•

en:normal axonal flare response after intradermal histamine injection

•

en:normal free urinary cortisol

•

en:normal male karyotype (46,xy)

•

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

•

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

•

en:normal plasma phytanic acid

•

en:normal serum biotin concentration

•

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

•

en:normal to slightly elevated plasma cholesterol

•

en:elevated plasma estrogen

◀

Génériques

[F] [H]

›

en:decreased

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846501 • caches: c1=18 c2=1017 c3=3

+/-

♥

po

la

ti

le

as

ku

co

lo

to

ta

ta

xe

po

li

?!

!?

[Vider le cache]