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

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

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C1844638

Associations d'idées

[F]

›

1000

en:pcs shows separate and splayed chromatids with discernible centromeres

•

en:mitochondrial deletions

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

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

•

en:decreased plasma arginine

•

en:decreased serum levels of maoa products

•

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

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:hypocalcemia (64% of adults)

•

en:increased serum beta-carotene

•

en:increased urinary 2-hydroxybutyrate

•

en:increased urinary orotic acid (in some patients)

•

en:median mean platelet volume (mpv) 20fl

•

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

•

en:no elevation of free fatty acids

•

en:elevated plasma cholestanol

•

en:secondary decrease of plasma free carnitine

•

en:increased csf pyruvic acid

•

en:inappropriately increased urine osmolality

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:multiple tissue biopsies show lysosomal storage disease

•

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

•

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

•

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

•

en:urinary prostaglandin e

•

en:decreased serum acth

•

en:elevated 1,25(oh)2 d3

•

en:increased serum acyl carnitines

•

en:hypoprebetalipoproteinemia

•

en:hypokalemia

•

en:high plasma asparagine

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

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

•

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

•

en:cystathioninuria (lab finding)

•

en:chronic hypercapnia

•

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

•

en:increased serum bilirubin due to hemolysis

•

en:incresased urinary pyruvate

•

en:decreased csf serine

•

en:hypogammaglobulinemia

•

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

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:low or undetectable c-peptide

•

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

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

en:hemoglobin decreased

•

en:hawkinsinuria

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:elevated propionate

•

en:normal to slightly high alkaline phosphatase

•

en:3-methylglutaconic aciduria (3-mgc)

•

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

•

en:elevated sweat chloride (some)

•

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

•

en:hereditary angioedema

•

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

•

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

•

en:increased urinary magnesium

•

en:isovalerylglycinuria

•

en:decreased fibroblast iduronate sulfatase

•

en:tyrosinemia (transient, resolves in infancy)

•

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

•

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

•

en:2-aminoadipic aciduria

•

en:serum c-reactive protein may be increased

•

en:normal csf 5-hiaa

•

en:increased serum pyruvate

•

en:increased bone-specific alkaline phosphatase

•

en:hyperphenylalaninemia

•

en:green serum

•

en:elevated urinary 3-methylglutaconate

•

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

•

en:decreased serum c3 (atypical hus)

•

en:duplication or deletion at 11p15.5

•

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

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:elevated urinary 2-ethylhydracrylate

•

en:epstein-barr viraemia

•

en:increased lactate: pyruvate ratio (group b)

•

en:increased plasma and urinary pipecolic acid

•

en:increased serum 1,25-dihydroxyvitamin d3

•

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

•

en:3-methylglutaric aciduria

•

en:elevated sweat chloride

•

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

•

en:normal serum transferrin profiles

•

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

•

en:may have increased serum parathyroid hormone (pth)

•

en:elevated plasma citrulline (citrullinemia)

•

en:intracellular accumulation of unesterified cholesterol

•

en:increased csf histidine

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:decreased erythrocyte lactate clearance (transport), 40 to 50% of normal values

•

en:direct coombs test negative

•

en:deficient fibroblast aicar-tf activity

•

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

•

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

•

en:low or absent thyrotropin (tsh)

•

en:normal sedimentation rate

•

en:normal serum liver enzymes

•

en:fasting ketosis

•

en:normal plasma total homocysteine

•

en:mild elevation of triglycerides

•

en:iron binding capacity total increased

•

en:paraproteinemia

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:abnormal secretin test

•

en:tsh decreased

•

en:serum transaminase increased

•

en:serum acid phosphatase normal

•

en:phosphaturia (in some)

•

en:abnormal serum transferrin pattern (in some patients)

•

en:alpha fetoprotein increased

•

en:decreased grhpr activity

•

en:elevated 3-methylcitric acid

•

en:granular osmiophilic cytoplasmic deposits (grod) ultrastructurally in cells

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:increased cellular sensitivity to uv light

•

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

•

en:mild eosinophilia may occur

•

en:decreased plasma glycine

•

en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine

•

en:no mucopolysacchariduria

•

en:decreased plasminogen activity

•

en:plasma aldosterone increased

•

en:patient cells show increased chromosome breakage

•

en:pt normal

•

en:hypercholesterolemia

•

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

•

en:elevated urinary mevalonic acid

•

en:elevated pth (parathyroid hormone)

•

en:myoglobinuria

•

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

•

en:cd4/cd8 ratio decreased

•

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

•

en:hyperornithinemia

•

en:increased blood alanine

•

en:increased pyruvate in serum and csf

•

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

•

en:fibroblasts show increased sensitivity to apoptosis

•

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

•

en:increased serum s-adenosylhomocysteine

•

en:severely decreased palmitate oxidation

•

en:low urinary excretion of neutral 17-ketosteroids

•

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

•

en:severe hypernatremia in neonatal period

•

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

•

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

•

en:abnormal lipid profile

•

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

•

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

•

en:eosinophilia

•

en:hypercalcemia

•

en:hypertriglyceridemia (in some patients)

•

en:increased urinary phospholipids

•

en:increased urinary thiosulfate

•

en:mildly elevated hepatic enzymes

•

en:low-to-normal csf lactate

•

en:normal or increased serum phytanic acid

•

en:abnormal karyotype in 3 patients involving distal 6p

•

en:decreased adenosylcobalamin

•

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

•

en:elevated erythrocyte adenosine deaminase activity

•

en:increased disialotransferrin and asialotransferrin levels

•

en:increased tissue long-chain fatty acids

•

en:mildly elevated urinary mevalonic acid

•

en:transferase deficiency galactosemia

•

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

•

en:long-chain dicarboxylic aciduria

•

en:increased serum prostaglandin e2

•

en:increased serum thrombopoietin may occur

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:lactate dehydrogenase increased

•

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

•

en:increased urinary prostaglandin e2

•

en:increased urinary sialylglycopeptides

•

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

•

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

•

en:increased serum lactate dehydrogenase (ldh)

•

en:increased serum lysine (group b)

•

en:hypocalcemia

•

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

•

en:increased serum alpha-mannosidase

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

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

•

en:increased il18

•

en:increased fractional excretion of uric acid

•

en:increased fas ligand

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

en:impaired platelet aggregation

•

en:iiga and igg antigliadin antibodies (aga)

•

en:hyponatremia

•

en:hypoglycemia, intermittent

•

en:low growth hormone levels

•

en:hyperphosphatemia

•

en:loss of ciliary beat coordination

•

en:plasma triglycerides increased

•

en:low plasma triglyceride level

•

en:resistance to 1,25-dihydroxyvitamin d3

•

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

•

en:transaminitis

•

en:submucosal macrophages filled with sphingolipids

•

en:severely impaired ciliary motility

•

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

•

en:serum triglycerides increased

•

en:serum phosphate normal

•

en:serum iron raised

•

en:serum creatine kinase may be increased

•

en:serum complement decreased

•

en:serum calcitonin, increased

•

en:serum albumin low result

•

en:rheumatoid factor positive (finding)

•

en:reduced ferrochelatase activity

•

en:low serum levels of branched-chain amino acids

•

en:protein urine absent

•

en:polyploid sperm heads

•

en:hyperchloremia (mean 109 mm)

•

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

•

en:normal red cell counts

•

en:normal plasma and tissue carnitine

•

en:normal b12

•

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

•

en:mild hypertriglyceridemia

•

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

•

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

•

en:microtubule disorganization in some cilia

•

en:microscopic hematuria

•

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

•

en:hyperlactemia

•

en:elevated urinary 3-methylglutarate

•

en:homocysteinemia (in some patients)

•

en:cerebrospinal fluid oligoclonal bands

•

en:decreased insulin receptor binding

•

en:decreased fibrinogen (in some patients)

•

en:decreased fbp1 enzyme activity

•

en:decreased expression of gpi-anchored proteins on blood cells

•

en:decreased eno3 activity

•

en:decreased cpt1 activity

•

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

•

en:decreased aminoacylase-1 activity

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:creatine phosphokinase serum increased

•

en:creatine decreased

•

en:chromosomal rearrangement

•

en:cholesterol low

•

en:antiribonuclear protein positive

•

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

•

en:anti-ds dna antibody

•

en:aminoaciduria, mild (in some patients)

•

en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria

•

en:agammaglobulinemia

•

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

•

en:absent tyrosinase activity

•

en:abnormal n-glycosylation of transferrin

•

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

•

en:abnormal igfr1 function

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:2-oxoadipic aciduria

•

en:variable defects of inner dynein arms

•

en:decreased lipid-linked oligosaccharides (llo)

•

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

•

en:high serum inosine levels

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

en:hematuria (less common)

•

en:glycosuria (less common)

•

en:glutaric acidemia type 1

•

en:globulin gamma serum plasma increased result

•

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

•

en:fibronectin decreased

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

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

•

en:fasting hypoglycemia (early in disease course)

•

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

•

en:elevated urinary pge(2) levels

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:elevated serum alpha-fetoprotein

•

en:elevated long chain fatty acids

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

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

•

en:elevated gamma-glutamyltransferase

•

en:elevated biopterin in csf

•

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

•

en:diffuse deposition of calcium oxalate in various tissues

•

en:deletion of chromosome 18p11.2

•

en:deficiency or absence of p91-phox protein

•

en:decreased urinary excretion of uromodulin

•

en:decreased thyroxine level

•

en:decreased telomere length in lymphocytes

•

en:decreased serum ceruloplasmin

•

en:decreased red cell pyruvate kinase activity

•

en:decreased plasma free carnitine

•

en:urinary excretion of sialylated oligosaccharides

•

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

•

en:abacterial leukocyturia

•

en:increased urinary and serum glycine

•

en:lysyl hydroxylase deficiency

•

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

•

en:low or absent luteinizing hormone (lh)

•

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

•

en:low cholesterol esterification rates

•

en:low-to-normal platelet count

•

en:liver transaminases normal to slightly increased

•

en:lack of lysosomal inclusions in visceral organs

•

en:intermittent ethylmalonic aciduria

•

en:increased urine oligosaccharides

•

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

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

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

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:median mean platelet volume (mpv) 18fl

•

en:increased serum bile acids

•

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

•

en:increased serum alkaline phosphatase (in some patients)

•

en:increased plasma vldl, ldl

•

en:increased plasma progastrin

•

en:increased plasma pipecolic acid

•

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

•

en:increased osmotic fragility

•

en:increased neopterin in urine and csf

•

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

•

en:increased c10:2-carnitine

•

en:increased 18-oxocortisol

•

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

•

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

•

en:methioninuria

•

en:hypokalemia during attacks

•

en:rheumatoid factor negative

•

en:vitamin k deficiency

•

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

•

en:variably increased serum creatine kinase

•

en:variable respiratory chain enzyme deficiency

•

en:vacuolated lymphocytes

•

en:tyrosinemia

•

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

•

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

•

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

•

en:slightly increased serum alkaline phosphatase may occur

•

en:serum transferrin glycosylation is normal

•

en:serum testosterone level normal

•

en:serum folate low

•

en:prolonged partial thromboplastin time (ptt)

•

en:microdeletion 22q11.2

•

en:premature separation of centromeric heterochromatin

•

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

•

en:phosphaturia

•

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

•

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

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

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

•

en:no hyperuricemia

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:no c8 antigen detected

•

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

•

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

•

en:normal cerebrospinal fluid

•

en:hypokalemia occurs during paralytic attacks

•

en:markedly increased serum creatine kinase

•

en:hypoalbuminemia (in 83%)

•

en:cd4+/cd8+ ratio often reversed

•

en:decreased or absent udp-glucuronyl-transferase activity

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:decreased levels of plasma factor viii

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:decreased hepatic udp-glucuronyl-transferase activity

•

en:decreased fibroblast beta-hexosaminidase

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:decreased apoa-i and apoa-ii

•

en:decreased activity of ppt1

•

en:decreased activity of mitochondrial complex i

•

en:decreased acid beta galactosidase protein and activity

•

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

•

en:cerebrospinal fluid lymphocytosis

•

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

•

en:decreased scad activity

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

en:anti-factor viii positive

•

en:aminoaciduria (1 patient)

•

en:alpha ketoadipic aciduria

•

en:alkaline phosphatase normal

•

en:absence of hepatic udp-glucuronyl-transferase

•

en:absence of cpt ii protein

•

en:abnormal serum protein electrophoresis (elevated alpha-2 band)

•

en:hypertriglyceridemia, transient

•

en:abnormal oral glucose tolerance

•

en:abnormal nasal potential difference

•

en:decreased plasma apolipoprotein c-ii

•

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

•

en:decreased serum androgens

•

en:elevated serum iron

•

en:hyperkalemia during attacks

•

en:hypercholesterolemia (in 75%)

•

en:hypercalciuria (in some patients)

•

en:hyperbilirubinemia

•

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

•

en:hydroxyprolinuria

•

en:hemophilia b

•

en:hemizygous deletion at 4p16.3

•

en:glycogen storage disease type vi

•

en:generalized amyloid deposition

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:ferritin decreased

•

en:elevated urinary ornithine, lysine, arginine

•

en:elevated serum transferrin saturation

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:echocardiogram abnormal

•

en:deficiency of fructokinase

•

en:decreased ubiquinone-10

•

en:elevated plasma follicle stimulating hormone (fsh)

•

en:elevated levels of vitamin b12

•

en:decreased serum free thyroxine

•

en:elevated cerebrospinal fluid (csf) protein

•

en:elevated 3-hydroxypropionic acid

•

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

•

en:diminished lymphocyte response to phytohemaglutinin

•

en:dilated rough endoplasmic reticulum (rer)

•

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

•

en:elevated plasma luteinizing hormone (lh)

•

en:intermediate level of cellular sensitivity to uv light

•

en:metabolic acidosis

•

en:iodine depletion

•

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

•

en:increased urinary uracil

•

en:intermittent increase of urinary ethylmalonic acid

•

en:lysosomal-like storage vacuoles in various tissues

•

en:leukotriene c4 synthetase deficiency

•

en:low leukocyte alkaline phosphatase activity

•

en:low or normal serum igm

•

en:low plasma hdl

•

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

•

en:methylsuccinic aciduria

•

en:increased urinary sulfatides

•

en:increased long-chain acylcarnitine

•

en:increased urinary dopamine

•

en:increased urinary catecholamines

•

en:increased urinary 3-oh-butyric acid

•

en:increased urinary, plasma, and csf dihydrouracil

•

en:increased triglycerides (less common)

•

en:increased serum lactate (in some patients)

•

en:increased serum arylsulfatase a.

•

en:increased serum acylcarnitines

•

en:increased serum, urinary, and csf saccharopine (in some patients)

•

en:increased platelet aggregation with ristocetin

•

en:increased plasma proglucagon

•

en:increased plasma long-chain acylcarnitines

•

en:increased csf and plasma ghb

•

en:increased csf immunoglobulin levels

•

en:monoclonal gammopathy

•

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

•

en:very low igm

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

en:plasma aldosterone normal

•

en:igg deficiency

•

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

•

en:abetalipoproteinemia (lab finding)

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

en:tyrosine loss

•

en:sterol 27-hydroxylase deficiency

•

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

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:serum c-peptide and glucagon levels measurable

•

en:sce normal in heterozygotes

•

en:reduced ige levels

•

en:propionic acidemia

•

en:presence of vacuoles on muscle biopsy

•

en:positive urine dnph screening test

•

en:partial deficiency of factor xiii(c)

•

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

•

en:organic aciduria, mild (in some patients)

•

en:normocalcemia

•

en:normal to prolonged bleeding time

•

en:normal to mildly increased serum creatine kinase

•

en:normal serum complement levels

•

en:normal serum cobalamin

•

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

•

en:normal parathyroid hormone (female)

•

en:normal or mildly decreased arylsulfatase a activity

•

en:normal iga levels

•

en:normal complex ii activity

•

en:normal ciliary structure and function

•

en:nonketotic hypoglycemia

•

en:neonatal hypocalcemia

•

en:increased 18-ohb to aldosterone ratio

•

en:abnormal transferrin isoelectric focusing (ief)

•

en:igg, decreased

•

en:carnitine deficiency

•

en:decreased or absent steroid sulfatase activity

•

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

•

en:decreased levels of certain coagulation factors

•

en:decreased glutamine in bodily fluids

•

en:decreased fibroblast arylsulfatase a

•

en:decreased csf homovanillic acid (hva)

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased copper, iron, zinc

•

en:decreased ciliary motility

•

en:decreased beta-galactosidase activity

•

en:decreased activity of phosphoglycerate kinase 1

•

en:coombs positive hemolytic anemia

•

en:chylomicronemia, refractory fasting

•

en:cells show increased sensitivity to ionizing radiation

•

en:broad tissue deposition of amylopectin-like material

•

en:decreased plasma apolipoprotein b (apob, 107730)

•

en:ballooned neurons

•

en:associated with serum anti-phospholipid antibodies in about 50% of patients

•

en:amylo-1,6-glucosidase deficiency

•

en:aminoaciduria

•

en:alpha-fetoprotein normal

•

en:alkaline phosphatase serum increased

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

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

•

en:absence of outer dynein arms

•

en:abnormal liver enzymes during illness

•

en:abnormal dystrophin on muscle biopsy

•

en:4-hydroxyphenylacetic aciduria

•

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

•

en:abnormal liver function tests (in some patients)

•

en:decreased or normal plasma insulin

•

en:decreased plasma total cholesterol

•

en:hypoxia

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:hypomagnesemia

•

en:hypoalbuminemia

•

en:hypertriglyceridemia

•

en:hyperglycolic aciduria

•

en:hyperglycemias, postprandial

•

en:hyperchloridura

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:hyperammonemia

•

en:hemoglobin f increased

•

en:hemizygous deletion at 7q11.23

•

en:glycogen storage disease type vii

•

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

•

en:galactosuria

•

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

•

en:fasting chylomicronemia

•

en:decreased serum factor i (atypical hus)

•

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

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:defect in mitochondrial and peroxisomal fission

•

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

•

en:deficiency or absence of p22-phox protein

•

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

•

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

•

en:elevated plasma alloisoleucine

•

en:factor vii deficiency

•

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

•

en:elevated pyruvate (in most patients)

•

en:elevated serum iron and iron binding capacity

•

en:elevated serum protein

•

en:elevated urine unsulfated chondroitin sulfate

•

en:ethylmalonic aciduria

•

en:abnormal liver enzymes (rare)

•

en:hypogammaglobulinemia (in some patients)

•

en:absent axonal flare response to intradermal histamine injection

•

en:isovaleric acidemia

•

en:mild elevation of cholesterol

•

en:mildly increased serum lactate

•

en:mildly elevated creatine phosphokinase

•

en:microduplication of chromosome 5p13

•

en:methylmalonic aciduria

•

en:metachromasia of white blood cells and fibroblasts

•

en:mean platelet volume (mpv) 12.6fl

•

en:lysine-ketoglutarate reductase deficiency

•

en:low to very low hdl cholesterol

•

en:low to low-normal magnesium

•

en:low or normal serum erythropoietin

•

en:lack of ciliary motility

•

en:ketosis

•

en:keratan sulfate excretion in urine that decreases with age

•

en:indirect hyperbilirubinemia

•

en:neutropenia

•

en:increased urine vanillactic acid (vla)

•

en:increased urinary tricarboxylic acid intermediates

•

en:increased urinary thymine

•

en:increased urinary methylcitrate

•

en:increased urinary dicarboxylic acid, transient

•

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

•

en:increased urinary creatine

•

en:increased urinary carnitine esters

•

en:increased sodium-potassium pump activity

•

en:increased serum triglycerides (in some patients)

•

en:increased serum lactate in acute stage

•

en:increased serum and csf glycine

•

en:increased prv-1 (162860) mrna

•

en:increased lactate in spinal fluid

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:normal eosinophil peroxidase activity

•

en:increased il1b increased soluble il2r

•

en:reduced unsaturated serum cobalamin binding capacity

•

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

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:tryptophanuria

•

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

•

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

•

en:shortened telomeres (1 patient)

•

en:severely decreased antigen levels of vwf and factor viii

•

en:serum iron normal

•

en:serum ferritin hyperglycosylation

•

en:serum creatine kinase may be normal or increased

•

en:serum aldosterone elevated

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:renin decreased

•

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

•

en:normal exocrine pancreatic function

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

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

•

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

•

en:prolinuria

•

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

•

en:pink urine

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

en:phosphaturia may disappear after a long period of time

•

en:partial deficiency of factor xiii (less common)

•

en:normal urinary pterins

•

en:normal tyrosinase

•

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

•

en:normal male karyotype (46,xy)

•

en:normal lysl hydroxylase activity

•

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

•

en:serum lactate is usually normal

•

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

•

en:decreased mitochondrial nadp(h)

•

en:dermatan and heparan sulfate excretion in urine

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

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

•

en:defect in double-stranded dna repair

•

en:defective glcnac-pi synthesis

•

en:defective dna repair

•

en:decreased tissue and serum alkaline phosphatase

•

en:decreased tetrasialo-transferrin

•

en:decreased serum iga

•

en:decreased serum haptoglobin

•

en:decreased serum bun

•

en:decreased serum 18-ohb

•

en:decreased plasma and urinary ornithine

•

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

•

en:decreased methylmalonyl-coa mutase activity

•

en:distal xp22.3 segmental monosomy

•

en:decreased glycerol kinase activity

•

en:decreased glomerular filtration rate (gfr)

•

en:decreased fumarate hydratase activity

•

en:decreased erythrocyte plasmalogen

•

en:decreased csf pyridoxal

•

en:decreased cortisol-binding globulin

•

en:decreased circulating aldosterone level

•

en:decreased beta-thromboglobulin

•

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

•

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

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

en:cellular arrest at g2 of the cell cycle

•

en:increased ferritin

•

en:bilirubin may or may not be increased

•

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

•

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

•

en:electron microscopy of foam cells shows lamellar inclusions

•

en:high urinary copper

•

en:increased excretion of urobilinogen

•

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

•

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

•

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

•

en:increased bile acid intermediates (dhca and thca)

•

en:inappropriately normal or increased plasma hepcidin

•

en:igg, elevated

•

en:hypomethioninemia

•

en:hypoketotic hypoglycemia

•

en:hypocalcemia (male)

•

en:hypocalcemia, transient

•

en:hyperthreoninuria

•

en:hyperphosphatemia, transient

•

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

•

en:increased cerebrospinal fluid (csf) protein (>100mg/dl)

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:elevated serum parathyroid hormone (pth) level

•

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

•

en:elevated fasting glucose

•

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

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated serum bile acids

•

en:increased csf threonine

•

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

•

en:fibroblasts show decreased mitochondrial complex v activity

•

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

•

en:hepatic ornithine transcarbamylase deficiency

•

en:enzyme replacement therapy has not been effective

•

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

•

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

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:increased urinary 2-methylbutyryl glycine

•

en:increased urinary dihydropyrimidines

•

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

•

en:increased urinary hypoxanthine

•

en:low urinary cyclic amp response to pth administration

•

en:increased urinary ketones

•

en:increased urine porphyrins at times

•

en:markedly reduced iga levels

•

en:median mean platelet volume (mpv) 12.5fl

•

en:methemoglobinemia

•

en:increased tissue levels of free fatty acids

•

en:increased serum s-adenosylmethionine

•

en:increased serum total cholesterol

•

en:hyperglycinemia (1 patient)

•

en:increased serum osteocalcin

•

en:increased serum direct bilirubin

•

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

•

en:increased serum and csf lactate

•

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

•

en:increased il6, episodic

•

en:increased hepatic parenchymal cell stainable iron

•

en:impaired o-glycosylation

•

en:immunoglobulin antibodies present

•

en:methylmalonic acidemia

•

en:immotile cilia

•

en:increased plasma renin activity

•

en:orotic aciduria

•

en:methylmalonic aciduria, mild

•

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

•

en:urocanase deficiency

•

en:hyperbilirubinemia, non-hemolytic unconjugated (may rise with fasting or dehydration)

•

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

•

en:thrombocytopenia

•

en:tay-sachs disease

•

en:serum iron low (finding)

•

en:serum calcium normal

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

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

•

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

•

en:raised tsh level

•

en:prolidase deficiency

•

en:parathyroid hormone level increased

•

en:mildly decreased serum creatinine

•

en:oestradiol decreased

•

en:no hyperphenylalaninemia

•

en:no hematuria

•

en:normal serum phosphorus

•

en:normal prolyl 4-hydroxylase activity

•

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

•

en:normal plasma renin

•

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

•

en:normal or mildly increased serum creatine kinase

•

en:normal number of t and b lymphocytes

•

en:normal liver histology

•

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

•

en:multi-tailed spermatozoa

•

en:hypercholesterolemia (disorder)

•

en:decreased plasma lpl levels (in some patients)

•

en:hyperalphalipoproteinemia

•

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

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:decreased nasal nitric oxide (in some patients)

•

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

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

en:decreased mitochondrial complex v assembly

•

en:decreased long-chain fatty acid oxidation

•

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

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

en:decreased complement factor d

•

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

•

en:decreased activity of thymidine phosphorylase

•

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

•

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

•

en:decreased respiratory chain complex iii activity in multiple tissues

•

en:citrullinemia

•

en:cell studies show increased dna breakage

•

en:biotinidase deficiency

•

en:antineutrophil cytoplasmic antibody

•

en:adenylosuccinase deficiency (finding)

•

en:acute-phase reactants during fever

•

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

•

en:absence of chylomicrons in lymph and plasma

•

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

•

en:abnormal acylcarnitine profiles

•

en:4-hydroxyphenyllactic aciduria

•

en:4-hydroxyphenylactic aciduria

•

en:decreased or absent serum ceruloplasmin

•

en:decreased s-ado:saicar ratio

•

en:hydrocortisone decreased

•

en:elevated progesterone

•

en:homozygous 122kb deletion 11p15-p14

•

en:homocitrullinuria

•

en:hla-dqw6 association (dqb1*0602)

•

en:high plasma citrulline (1000-5000 micromolar)

•

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

•

en:hair bulb tyrosinase present

•

en:glucose-6-phosphate deficiency

•

en:frequent deletions of chromosome 9 in melanoma

•

en:extremely low creatine excretion

•

en:exercise-induced myoglobinuria

•

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

•

en:elevated prothrombin time

•

en:elevated hepatic transaminases

•

en:decreased serum and muscle coenzyme q

•

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

•

en:elevated ast and ldh, especially infantile-onset

•

en:elevated androstenedione and testosterone

•

en:elevated alkaline phosphatase (in one patient)

•

en:elevated 2-ketoglutarate (urine)

•

en:disseminated intravascular coagulation

•

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

•

en:defective dna repair after ultraviolet radiation damage

•

en:decreased xanthine dehydrogenase activity

•

en:decreased t cells

•

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

•

en:decreased serum rt3

•

en:decreased serum igm

•

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

•

en:direct hyperbilirubinemia

•

en:5-oxoprolinase deficiency

•

en:interstitial or terminal deletion of 18q

•

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

•

en:neutrophilia, both basal and during infections

•

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

•

en:mitochondrial complex i deficiency in muscle

•

en:mildly elevated acth

•

en:microsomal hmg-coa reductase decreased

•

en:low plasma tryptophan (inflammatory type b)

•

en:low ldl cholesterol

•

en:lactic acidemia

•

en:lactate high

•

en:karyomegaly may be found in other visceral organs

•

en:iron overload (in some patients)

•

en:inner and outer dynein arm defects, variable

•

en:normal igg levels

•

en:increased urinary s-sulfocysteine

•

en:increased urinary propionyl glycine

•

en:increased urinary oxylate

•

en:increased urinary l-glycerate

•

en:increased urinary 2-oxoglutaric acid

•

en:increased serum lactate during metabolic crisis

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased serum lactate (mild)

•

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

•

en:increased plasma lactate

•

en:increased plasma 2-methylbutyrylcarnitine

•

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

•

en:normal calcium (female)

•

en:normal phytanic acid

•

en:increased histidine in blood, urine, and csf

•

en:serum creatine kinase 20-70 times normal

•

en:x-linked dyskeratosis congenita

•

en:vitamin b12 deficiency (uncommon)

•

en:very low density lipoprotein increased

•

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

•

en:urine cortisol, increased

•

en:uric acid normal

•

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

•

en:translocation of chromosomes 9 and 13

•

en:thyroid hormone organification defect

•

en:thrombocytosis (in some patients)

•

en:some cilia show abnormal beating patterns or immotility

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

en:serum cortisol decreased

•

en:normal serum biotin concentration

•

en:schirmer test shows alacrima

•

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

•

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

•

en:prolonged activated partial thromboplastin time (aptt)

•

en:primary immunoglobulin-related amyloidosis (al)

•

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

•

en:plasma protein c deficiency

•

en:parathyroid hormone (pth) absent to low

•

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

•

en:no ketonuria

•

en:no evidence of common prenatal infections

•

en:abnormal columnization of chondrocytes

•

en:normal to slightly elevated plasma cholesterol

•

en:increased il-8

•

en:no chromosomal breakage

•

en:increased csf lactate

•

en:decreased csf glycine

•

en:decreased serum luteinizing hormone (lh)

•

en:decreased plasma total and free carnitine

•

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

•

en:decreased plasma esterified cholesterol

•

en:decreased phk activity in liver

•

en:decreased or normal serum c3

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

en:decreased numbers of t regulatory cells

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

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

•

en:decreased levels of the e2 subunit protein

•

en:decreased expression of glycosylphosphatidylinositol-linked proteins (e.g., cd59 107271 and cd24 600274) on hematopoietic cells

•

en:decreased c3 antigen

•

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

•

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

•

en:decreased agt activity

•

en:cytoplasmic lamellar concentric inclusions

•

en:continuous urinary iodine loss

•

en:blood pyruvic acid increased

•

en:axonemes show normal structure

•

en:antineutrophil antibody positivity

•

en:androgens increased

•

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

•

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

•

en:abnormal liver enzymes (1 patient)

•

en:increased ammonia with exercise

•

en:decreased testosterone level

•

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

•

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

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:increased 18-hydroxycortisol

•

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

•

en:immunoglobulin a decreased

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:hypertriglyceridemia (rare)

•

en:hyperprostaglandinuria

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:hypercholesterolemia (10%)

•

en:glutaric aciduria

•

en:glucosuria, mild, intermittent

•

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

•

en:foam cells in bone marrow and renal glomeruli

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

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

•

en:deficient efflux of intracellular cholesterol

•

en:dhea sulfotransferase below limit of detection

•

en:dyskinetic ciliary motility

•

en:elevated 17-hydroxyprogesterone

•

en:elevated 7-dehydrocholesterol

•

en:elevated afp (endodermal sinus tumor)

•

en:elevated alpha-ketoglutarate (in most patients)

•

en:elevated androstenedione

•

en:elevated calcitonin

•

en:elevated crp

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased serum beta-hexosaminidase

•

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

•

en:increased serum citrulline (group b)

•

en:increased serum creatine kinase (patient a)

•

en:increased transferrin saturation (>60%)

•

en:increased serum gm-csf

•

en:increased serum manganese

•

en:increased serum transaminases (in 1 of 3 patients)

•

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

•

en:increased susceptibility to ebv infection

•

en:increased uric acid with exercise

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased serum, urinary, and csf lysine

•

en:hyperprolinemia (5-10 times normal)

•

en:increased rai (radioactive iodine) uptake

•

en:increased circulating renin level

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:hypergammaglobulinemia

•

en:hyperoxalaemia

•

en:hyperuricemia

•

en:hypobetalipoproteinemias

•

en:increased alpha-fetoprotein (1 patient)

•

en:increased creatine kinase (ck)

•

en:increased plasma branched-chain fatty acids

•

en:increased csf protein

•

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

•

en:increased free cyanocobalamin in fibroblasts

•

en:increased gamma-interferon

•

en:increased lysine in serum and csf

•

en:increased peripheral blood monocytes

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:serum mitochondrial autoantibodies

•

en:increased urinary excretion of cystine

•

en:normal serum phytanic and pristanic acid

•

en:type 1 collagen overmodification

•

en:thyroid dyshormonogenesis 3

•

en:serum prolactin increased

•

en:serum phosphate concentration below normal

•

en:serum cholesterol low or normal

•

en:serum carnitine deficiency

•

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

•

en:reticulocytosis

•

en:reduced serum uric acid

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:proper antibody response to protein vaccinations

•

en:phytanic acid accumulation

•

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

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:normal serum and mucosal iga

•

en:increased urinary glycerol

•

en:low serum levels of ketone bodies

•

en:increased urinary hydroxyisovaleric acid

•

en:increased urinary sulfatide excretion

•

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

•

en:leukocytosis

•

en:low free carnitine

•

en:low serum igg and iga

•

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

•

en:normal serum 1,25-dihydroxyvitamin d3

•

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

•

en:nephrotic syndrome

•

en:normal baseline cortisol

•

en:normal lysyl hydroxylase activity

•

en:normal or increased serum phosphate

•

en:normal plasma phytanic acid

•

en:hyperchloremia (mean 111 mm)

◀

Génériques

[F] [H]

›

en:increased

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6881314 • caches: c1=46 c2=2208 c3=2

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