Le Diko - en:deficiency or absence of p91-phox protein

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Le Diko - en:deficiency or absence of p91-phox protein

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en:deficiency or absence of p91-phox protein

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:thrombocytosis (in some patients)

•

en:lactate pyruvate ratio normal

•

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

•

en:abnormal acylcarnitine profiles

•

en:absent ch50 activity in complete c4 deficiency

•

en:bilirubin conjugated increased

•

en:cilia show inner and outer dynein arm defects

•

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

•

en:decreased red cell pyruvate kinase activity

•

en:igm deficiency

•

en:increased 18-oxocortisol

•

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

•

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

•

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

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

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

•

en:serum osmolality decreased

•

en:mildly increased serum lactate

•

en:increased interferon-alpha signal

•

en:myoglobinuria after exertion

•

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

•

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

•

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

•

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

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:abnormal cholesterol homeostasis

•

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

•

en:decreased decr enzyme activity

•

en:decreased nasal nitric oxide (in some patients)

•

en:enzyme replacement therapy has not been effective

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:inappropriately increased urine osmolality

•

en:keratan sulfaturia in some patients

•

en:2-aminoadipic aciduria

•

en:abnormal cartilage collagen on em

•

en:hyperuricuria

•

en:chromosomal instability

•

en:increased urinary methylcitrate

•

en:decreased activity of 2-oxoacid dehydrogenases

•

en:marked hypobetalipoproteinemia

•

en:markedly reduced igg levels

•

en:indirect hyperbilirubinemia

•

en:rheumatoid factor negative

•

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

•

en:very low leptin level

•

en:elevated erythrocyte aicar (zmp)

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

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

•

en:decreased blood levels of cationic amino acids

•

en:glucosuria, mild, intermittent

•

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

•

en:increased urinary 3-methylcrotonylglycine

•

en:marked hypoalphalipoproteinemia (in some patients)

•

en:neonatal hypocalcemia

•

en:t-lymphocytopenia

•

en:urine osmolarity decreased

•

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

•

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

•

en:elevated sed rate

•

en:elevated serum transaminase levels

•

en:hyperlipoproteinemia type i

•

en:immunoglobulin antibodies present

•

en:median mean platelet volume 13fl

•

en:normal calcium (female)

•

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

•

en:normal urinary pterins

•

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

•

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

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:high sweat sodium and chloride

•

en:increased serum bilirubin due to hemolysis

•

en:normocalcemia

•

en:neutropenia (in 1 patient)

•

en:low fasting glucose (in some patients)

•

en:increased urinary thiosulfate

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

en:hypocitraturia

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:elevated afp (endodermal sinus tumor)

•

en:decreased plasma apolipoprotein b (apob, 107730)

•

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

•

en:abnormal eeg in 25% hospitalized patients

•

en:reduced ige levels

•

en:hb h erythrocyte inclusions

•

en:anomalies of cholesterol levels

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

en:normal urinary cyclic amp response to pth administration

•

en:markedly increased serum creatine kinase

•

en:ketoacidosis

•

en:plasma protein c deficiency

•

en:increased serum, urinary, and csf lysine

•

en:hyperthreoninemia

•

en:vacuolated lymphocytes

•

en:deficiency of fructokinase

•

en:decreased or normal serum factor i

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

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

•

en:karyotype analysis normal finding

•

en:increased plasma and urinary pipecolic acid

•

en:hypocalcemia (male)

•

en:decreased t cells

•

en:elevated crp

•

en:dyskinetic ciliary motility

•

en:dermatan and heparan sulfate excretion in urine

•

en:abnormal liver enzymes, intermittent (1 patient)

•

en:low maximal oxygen uptake on exercise testing

•

en:low absolute lymphocyte count

•

en:phosphate normal

•

en:low serum anti-mullerian hormone (amh) levels

•

en:hyponatremic dehydration, rarely

•

en:reduced erythrocyte glucose/hexose transport

•

en:normal pyridinoline excretion in urine

•

en:low csf creatine

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:cd4+/cd8+ ratio often reversed

•

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

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

en:some cilia show central complex and radial spoke defects

•

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

•

en:hypoproteinemia

•

en:myopathy with type i fiber atrophy on muscle biopsy

•

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

•

en:increased tissue levels of free fatty acids

•

en:increased plasma long-chain acylcarnitines

•

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

•

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

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

en:decreased levels of serum vitamin b12

•

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

•

en:normal plasma renin

•

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

•

en:raised c-reactive protein

•

en:normal prolyl 4-hydroxylase activity

•

en:increased ferritin

•

en:normal serum erythropoietin (epo, 133170)

•

en:serum creatine kinase 20-70 times normal

•

en:normal-elevated plasma testosterone (male range)

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:hypoprebetalipoproteinemia

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:decreased sulfite oxidase activity

•

en:cellular arrest at g2 of the cell cycle

•

en:serum creatinine raised

•

en:predominance of the d-stereoisomer

•

en:low plasma hdl

•

en:serum calcium normal

•

en:presence of vacuoles on muscle biopsy

•

en:normal serum plasmalogen

•

en:normal blood lactate

•

en:elevated serum levels of follicle stimulating hormone (fsh)

•

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

•

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

•

en:decreased csf folate

•

en:decreased cerebrospinal fluid folic acid

•

en:decreased activity of phosphoglycerate kinase 1

•

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

•

en:variable hypoglycemia

•

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

•

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

•

en:increased serum alanine

•

en:type 1 collagen overmodification

•

en:normal serum lipoprotein levels

•

en:low-molecular-weight proteinuria

•

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

•

en:increased serum lactate (mild)

•

en:normal or mildly reduced sphingomyelinase activity

•

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

•

en:hypercholesterolemia (reported in 2 patients)

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:high serum inosine levels

•

en:hereditary fructose intolerance

•

en:hepatic lipase deficiency (disorder)

•

en:normal lysyl oxidase activity

•

en:abnormal serum glycoproteins

•

en:d-2-hydroxyglutaric aciduria

•

en:decreased serum levels of maoa products

•

en:elevated fasting glucose

•

en:elevated inflammatory markers

•

en:hawkinsinuria

•

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

•

en:metabolic acidosis

•

en:normal isoelectric focusing of serum transferrin

•

en:decreased activity of the pdh phosphatase

•

en:normal or mildly increased serum creatine kinase

•

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

•

en:decreased c3 antigen

•

en:decreased plasma glycine

•

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

•

en:elevated serum alpha-fetoprotein

•

en:increased serum manganese

•

en:intermittent 3-methylglutaconic aciduria

•

en:lysine-ketoglutarate reductase deficiency

•

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

•

en:recurring t(11,14) and t(14,19)(q32,q13.1) translocations

•

en:increased serum creatine kinase (less common)

•

en:increased serum alanine (1 patient)

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

en:increased serum beta-carotene

•

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

•

en:increased serum direct bilirubin

•

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

•

en:increased serum pyruvate, mild

•

en:increased serum uric acid

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:increased plasma proglucagon

•

en:increased urinary acetoacetic acid

•

en:increased pyruvate in serum and csf

•

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

•

en:increased plasma phytanic acid

•

en:increased phytanic acid in body tissues and fluids

•

en:increased lactate: pyruvate ratio (group b)

•

en:increased interleukin 10

•

en:increased hepatic parenchymal cell stainable iron

•

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

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:hyponatremia in infancy

•

en:hyperuricemia

•

en:hypermethioninemia, progressive

•

en:hyperlipoproteinemia type iib

•

en:hypergammaglobulinemia

•

en:hyperbilirubinemia in those with liver failure

•

en:increased urinary potassium

•

en:increased urinary n-acetylated amino acids

•

en:normal to prolonged bleeding time

•

en:increased urinary tiglylglycine

•

en:normal to mildly increased serum creatine kinase

•

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

•

en:serum testosterone decreased

•

en:rheumatoid factor positive (finding)

•

en:reduced ferrochelatase activity

•

en:reduced erythrocyte gs activity

•

en:pseudohypertriglyceridemia in adult form

•

en:plasma triglycerides increased

•

en:phospholipid antibody positive

•

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

•

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

•

en:oligospermia or azoospermia

•

en:no hematuria

•

en:hydroxyprolinuria

•

en:normal or increased serum creatine kinase

•

en:indirect bilirubin increased

•

en:normal or decreased serum potassium

•

en:normal maltase, isomaltase, and sucrase activity

•

en:normal igm levels

•

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

•

en:microscopic hematuria

•

en:methylsuccinic aciduria

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:markedly reduced iga levels

•

en:low or absent igm levels

•

en:low growth hormone levels

•

en:lipopigment in extraneuronal cells

•

en:leukotriene c4 synthetase deficiency

•

en:iodine depletion

•

en:intermittent increase of urinary ethylmalonic acid

•

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

•

en:elevated ferritin l subunit

•

en:high urinary copper

•

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

•

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

•

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

•

en:decreased glutamine in bodily fluids

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:decreased csf methyltetrahydrofolate (mthf)

•

en:decreased clot retraction

•

en:decreased circulating cortisol level

•

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

•

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

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

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

•

en:decreased activities of multiple sulfatases

•

en:cholesterol low

•

en:decreased long-chain fatty acid oxidation

•

en:characteristic spheroids can be found in peripheral tissue, such as skin and conjunctiva

•

en:calcium normal

•

en:at least 2 complementation groups

•

en:aminoaciduria (in some patients)

•

en:agammaglobulinemia

•

en:adenylosuccinase deficiency (finding)

•

en:acute-phase reactants during fever

•

en:absence of chylomicrons in lymph and plasma

•

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

•

en:abnormal serum liver enzyme levels

•

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

•

en:3-methylglutaconic aciduria (3-mgc)

•

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

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

en:hepatic argininosuccinase deficiency

•

en:elevated serum lactate

•

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

•

•

en:glycogen accumulation in both liver and muscle

•

en:glutaric aciduria

•

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

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:fasting hyperinsulinemia

•

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

•

en:eosinophilia, mild

•

en:elevated urinary 3-methylglutaconate

•

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

•

en:elevated sweat chloride

•

en:elevated serum transaminases during infections

•

en:elevated serum alpha-fetoprotein (dominant)

•

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

•

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

•

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

•

en:elevated 17-hydroxyprogesterone

•

en:electrolyte disturbances from intractable diarrhea

•

en:distal xp22.3 segmental monosomy

•

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

•

en:deficiency of fat-soluble vitamins

•

en:decreased transferrin increased serum iron

•

en:decreased thyroxine level

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:decreased serum factor i (atypical hus)

•

en:decreased serum factor b (atypical hus)

•

en:decreased serum 25-hydroxyvitamin d

•

en:decreased or increased serum testosterone

•

en:subtelomeric deletion of chromosome 16p

•

en:elevated long chain fatty acids

•

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

•

en:increased serum creatine kinase (1 family)

•

en:low density lipoprotein increased

•

en:long-chain ketonuria

•

en:lack of lysosomal inclusions in visceral organs

•

•

en:increased urinary tricarboxylic acid intermediates

•

en:increased urinary o-linked sialopeptides

•

en:increased urinary neopterin

•

en:increased urinary malic acid

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased tissue long-chain fatty acids

•

en:increased tissue levels of triglycerides

•

en:increased thyroid-stimulating hormone (tsh)

•

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

•

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

•

en:low or absent follicle stimulating hormone (fsh)

•

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

•

en:increased rai (radioactive iodine) uptake

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

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

•

en:increased erythrocyte sedimentation rate, episodic

•

en:increased csf glycine

•

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

•

en:increased chromosomal breaks in response to cross-linking agents and ionizing radiation

•

en:increased cellular sensitivity to uv light

•

en:impaired creatine uptake in fibroblasts

•

en:hypoproteinemia (in 1 patient)

•

en:hyponatremia

•

en:hypomagnesemia

•

en:low free carnitine

•

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

•

en:hypoglycosylated serum transferrin

•

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

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

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

•

en:transferrin saturation increased

•

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

•

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

•

en:serum testosterone level normal

•

en:uroporphyrin i and coproporphyrin i are found in plasma, red blood cells, urine, and feces

•

en:serum carnitine deficiency

•

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

•

en:serum aldosterone elevated

•

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

•

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

•

en:reduced igg levels, particularly igg2 subclass

•

•

en:low serum levels of ketone bodies

•

en:positive antinuclear antibody test

•

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

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

en:no chromosomal breakage

•

en:normal serum parathyroid hormone (pth)

•

en:normal plasma total homocysteine

•

en:normal plasma phytanic acid

•

en:normal lysyl hydroxylase activity

•

en:normal concentration of parathyroid hormone

•

en:multiple autoantibodies

•

en:mean platelet volume (mpv) 12.6fl

•

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

•

en:low to normal serum calcium

•

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

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:serum lactate is usually normal

•

en:hypocalciuria

•

en:decreased factor xi

•

en:defective glcnac-pi synthesis

•

en:decreased triiodothyronine level

•

en:decreased plasma triglycerides

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:decreased plasma esterified cholesterol

•

en:decreased nasal nitric oxide

•

en:decreased mucosal alkaline phosphatase

•

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

•

en:decreased mitochondrial nadp(h)

•

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

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:decreased levels of cpt2 protein

•

en:decreased glomerular filtration rate (gfr)

•

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

•

en:deficiency of serum properdin p factor

•

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

•

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

•

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

•

en:chondroitin 6-sulfate excretion in urine

•

en:borderline elevated low-density lipoprotein

•

en:bicarbonaturia

•

en:argininosuccinic aciduria

•

en:anti-factor viii positive

•

en:androgens increased

•

en:aldolase a deficiency

•

en:absent dystrophin on muscle biopsy

•

en:absence of peroxidase staining in neutrophils and monocytes

•

en:hypertryptophanemia

•

en:3-methylglutaric aciduria

•

en:defect in chylomicron secretion

•

en:absent or severely reduced levels of serum immunoglobulins

•

en:deficient fibroblast aicar-tf activity

•

en:excessive iodide trapping

•

en:direct coombs test negative

•

en:hyperprolinemia (10-15 times normal)

•

en:hypernatremia

•

en:hyperphosphatemia

•

en:hyperkalemia

•

en:hyperglycolic aciduria

•

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

•

en:high ebv viral load

•

en:heteroplasmic partial duplication of mtdna

•

en:heparin cofactor ii deficiency (disorder)

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

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

•

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

•

en:hypermagnesiuria

•

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

•

en:elevated plasma alloisoleucine

•

en:elevated 2-ketoglutarate (urine)

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

en:electrocardiogram abnormal

•

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

•

en:elevated liver enzymes

•

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

•

en:elevated plasma citrulline (citrullinemia)

•

en:elevated plasma estrogen

•

en:elevated pyruvate (in most patients)

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:elevated urinary 2-ethylhydracrylate

•

en:elevated total bilirubin

•

en:increased serum growth hormone levels

•

en:increased plasma creatine

•

en:increased platelet aggregation with ristocetin

•

en:increased serum creatine kinase during episodes

•

en:increased serum parathyroid hormone (pth)

•

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

•

en:increased urinary dihydropyrimidines

•

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

•

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

•

en:increased urinary 2-hydroxybutyrate

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased igg level

•

en:hypoproteinemia due to hypercatabolism

•

en:increased csf interferon alpha

•

en:increased csf histidine

•

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

•

en:increased 18-hydroxycortisol

•

en:impaired oxidation of pyruvate

•

en:hypertriglyceridemia, transient

•

en:hyperprolinemia (5-10 times normal)

•

en:hyperoxalaemia

•

en:hypernatriuria

•

en:hyperkalemia during attacks

•

en:hyperglycemia

•

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

•

en:hyperammonemia

•

en:increased urinary glutaric acid

•

en:normal total urinary coproporphyrin

•

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

•

en:no elevation of free fatty acids

•

en:sialylation defects

•

en:high newborn serum levels of immunoreactive trypsinogen

•

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

•

en:serum iron raised

•

en:serum iron low (finding)

•

en:serum ferritin normal

•

en:serum ammonia increased

•

en:routine liver function tests normal

•

en:protein c decreased

•

en:prolonged partial thromboplastin time

•

en:phytanic acid increased

•

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

•

en:normal urinary orotic acid

•

•

en:normal urinary 17-ketosteroids

•

en:normal serum complement levels

•

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

•

en:normal or increased serum phytanic acid

•

en:normal number of t and b lymphocytes

•

en:normal complex ii activity

•

en:negative nitroblue tetrazolium (nbt) reduction test

•

en:myoglobinuria

•

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

•

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

•

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

•

en:lactate dehydrogenase increased

•

en:homocysteinemia

•

en:decreased serum b12 levels

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

en:decreased or absent dihydropteridine reductase activity

•

en:decreased nk cells (in some patients)

•

en:decreased monoamine oxidase a activity

•

en:decreased methylcobalamin (mecbl)

•

en:decreased fibrinogen (in some patients)

•

en:decreased fbp1 enzyme activity

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

en:decreased beta-oxidation of pristanic acid

•

en:decreased aminoacylase-1 activity

•

en:creatine kinase normal between episodes

•

en:cells show increased sensitivity to ionizing radiation

•

en:blood glucose normal

•

en:antiribonuclear protein positive

•

en:decreased serum and muscle coenzyme q

•

en:anti-ds dna antibody

•

en:aneuploidy of the x chromosome

•

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

•

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

•

en:absent tyrosinase activity

•

en:absent or abnormal thyroglobulin

•

en:abnormal transferrin isoelectric focusing (ief)

•

en:abnormal nuclear morphology

•

en:abnormal liver enzymes (in some patients)

•

en:4-hydroxyphenyllactic aciduria

•

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

•

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

•

en:decreased plasma free carnitine

•

en:decreased serum c3 (atypical hus)

•

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

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:heparan sulfate excretion in urine

•

en:hemophilia b

•

•

en:galactosemia

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:excessive urinary 5-oxo-l-proline

•

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:elevated serum bile acids

•

en:elevated plasma propionylcarnitine

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:elevated plasma luteinizing hormone (lh)

•

en:elevated long-chain acylcarnitine species (in some patients)

•

en:elevated erythrocyte adenosine deaminase activity

•

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

•

en:dicarboxylic aciduria

•

en:dhea sulfotransferase below limit of detection

•

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

•

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

•

en:defect in mitochondrial and peroxisomal fission

•

en:defect in dna repair

•

en:decreased xanthine dehydrogenase activity

•

en:decreased urinary sulfate

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:interstitial or terminal deletion of 18q

•

en:sterol 27-hydroxylase deficiency

•

en:low level of c4 and c2

•

en:mild elevation of cholesterol

•

en:mildly elevated acth

•

en:mild-moderate prolonged bleeding time

•

en:microsomal hmg-coa reductase decreased

•

en:methioninuria

•

en:methemoglobin concentration 12 to 19%

•

en:low to low-normal magnesium

•

en:low plasma tryptophan (inflammatory type b)

•

en:low or normal serum erythropoietin

•

en:low or absent luteinizing hormone (lh)

•

en:low or absent iga levels

•

en:low 25-oh-vitamin d level

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:large spermatozoa

•

en:karyomegaly may be found in other visceral organs

•

en:increased urinary taurine

•

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

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

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

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased serum citrulline (group b)

•

en:increased serum acylcarnitine during febrile crisis

•

en:increased lysine in serum and csf

•

en:increased cholesterol

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:myelin basic protein measurement, spinal fluid

•

en:hypofibrinogenemia

•

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

•

en:systemic amyloidosis may occur

•

en:urine uric acid decreased

•

en:tryptophanuria

•

en:transient hyperlipidemia

•

en:thyroid dyshormonogenesis 3

•

en:spongy degeneration of brain on histology

•

en:serum c-reactive protein may be increased

•

en:serum bilirubin increased

•

en:reduced unsaturated serum cobalamin binding capacity

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:reduced beating amplitudes in cilia

•

en:prolonged prothrombin time (pt)

•

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

•

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

•

en:polymorphonuclear leukocytosis, episodic

•

en:no ketonuria

•

en:no hyperuricemia

•

en:no evidence of perinatal infection

•

en:no c8 antigen detected

•

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

•

en:normal to mildly increased mucopolysacchariduria

•

en:normal serum phytanic and pristanic acid

•

en:normal serum biotin concentration

•

en:normal serum and mucosal iga

•

en:normal activity of von willebrand factor-cleaving protease

•

en:nephrotic syndrome

•

en:impaired platelet aggregation

•

en:upregulation of alpha-interferon-stimulated genes

•

en:hypoalbuminemia

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

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

•

en:decreased fibrillin-1 immunostaining in the dermis

•

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

•

en:decreased b cells

•

en:decreased agt activity

•

en:decreased activity of the e2 subunit (lipoyl transacetylase, 608770) of the pdh

•

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

•

en:decreased activity of mitochondrial respiratory chain complex i

•

en:cystathionine beta-synthase deficiency disease

•

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

•

en:atrial abnormalities on electrocardiogram

•

en:alkaline phosphatase normal

•

en:decreased phk activity in liver

•

en:adrenocorticotropic hormone, increased

•

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

•

en:abnormal liver function tests (in some patients)

•

en:abnormal liver enzymes (1 patient)

•

en:5-alpha-reductase-2 enzyme deficiency

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:3-methylglutaconic aciduria

•

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

•

en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine

•

en:thyroid hormones increased

•

en:thyroid dyshormonogenesis 4

•

en:thrombocytopenia

•

en:decreased natural killer cells

•

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

•

en:decreased plasminogen activity

•

en:elevated plasma stigmasterol

•

en:hyperchloridura

•

en:hyperalphalipoproteinemia

•

en:decreased renal calcium excretion

•

en:hydrocortisone decreased

•

en:high plasma asparagine

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

•

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

•

en:glycogen storage disease type v

•

en:glutaric acidemia type 1

•

en:galactosylation defects

•

en:elevated urinary delta-aminolevulinic acid

•

en:elevated serum parathyroid hormone (pth)

•

en:hyperglutaminemia

•

en:elevated fasting triglycerides

•

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

•

en:decreased serum carnitine in acute stage

•

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

•

en:decreased switched memory b cells

•

en:decreased tetrasialo-transferrin

•

en:decreased urinary calcium and phosphate excretion

•

en:decreased serum cholesterol (in some)

•

en:deletion of chromosome 18p11.2

•

en:disorganized growth plate cartilage

•

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

•

en:elevated 8(9)-cholestenol

•

en:elevated csf glycine

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:loss of ciliary beat coordination

•

en:liver phosphorylase kinase (phk) deficiency

•

en:lactic acidemia (2p21del)

•

en:irregularly shaped sperm heads

•

en:infantile hypophosphatasia

•

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

•

en:increased urinary cortisol/cortisone ratio

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

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

•

en:increased urinary 3-oh-butyric acid

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:increased serum thrombopoietin may occur

•

en:increased serum lactate hydrogenase

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:increased il18

•

en:increased iga level

•

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

•

en:increased creatine kinase, mild to moderate

•

en:increased ck-mb

•

en:increased 11-deoxycorticosterone

•

•

en:hypoketotic hypoglycemia

•

en:hypogammaglobulinemia (in some patients)

•

en:low-to-normal csf lactate

•

en:hypocalciuria or normocalciuria

•

en:urinary prostaglandin e

•

en:low rai (radioactive iodine) uptake

•

en:serum acid phosphatase normal

•

en:hypertriglyceridemia (rare)

•

•

en:tsh decreased

•

en:thyroid peroxidase defect

•

en:tay-sachs disease

•

en:structural abnormalities seen on chromosome analysis

•

en:serum triglycerides increased

•

en:serum prolactin decreased

•

en:serum cortisol elevated

•

en:serum chloride level decreased (finding)

•

en:serum c-peptide and glucagon levels measurable

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

en:methionine adenosyltransferase deficiency

•

en:polyploid sperm heads

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:plasmalogen deficiency

•

en:orotic aciduria

•

en:no cartilage staining with toluidine blue

•

en:normal serum phosphorus

•

en:normal erythrocyte gs activity

•

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

•

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

•

en:mild eosinophilia may occur

•

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

•

en:mildly elevated transaminases

•

en:hypobetalipoproteinemias

•

en:decreased phytanic acid oxidase activity

•

en:hypermagnesemia

•

en:creatine decreased

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

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

•

en:decreased levels of certain coagulation factors

•

en:decreased hepatic gaba transaminase activity

•

en:decreased grhpr activity

•

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

•

en:decreased ciliary motility

•

en:decreased beta-glucosidase protein and activity

•

en:decreased activity of tyrosine hydroxylase

•

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

•

en:cystathioninuria (lab finding)

•

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

•

en:decreased or absent serum ceruloplasmin

•

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

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

en:antineutrophil cytoplasmic antibody

•

en:aminoaciduria, mild (in some patients)

•

en:absent platelet agglutination in presence of ristocetin

•

en:absent axonal flare response after intradermal histamine injection

•

en:absent alkyl-dhap synthase activity

•

en:abnormal serum transferrin pattern (in some patients)

•

en:abnormal cardiolipin subspecies composition

•

en:3-methylglutaric aciduria (3-mga)

•

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

•

en:vitamin d deficiency

•

en:decreased or absent gch1 activity

•

en:decreased or absent steroid sulfatase activity

•

en:hyperglycinuria (disorder)

•

en:elevated free carnitine

•

en:hypercholesterolemia (in 75%)

•

en:hypercholesterolemia

•

en:high sweat electrolyte

•

en:high serum guanosine levels

•

en:high plasma triglyceride levels

•

en:high ornithine

•

en:hematuria, macroscopic and microscopic

•

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

•

en:farber lipogranulomatosis

•

en:elevated white blood cell cystine

•

en:elevated urinary mevalonic acid

•

en:elevated pregnenolone

•

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

•

en:decreased palmitate oxidation

•

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

•

en:elevated androstenedione

•

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

•

en:diminished lymphocyte response to phytohemaglutinin

•

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

•

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

•

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

•

en:defect in oxidative phosphorylation

•

en:decreased telomere length in lymphocytes

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:decreased secretion of igf1 in response to gh administration

•

en:decreased respiratory chain complex iii activity in multiple tissues

•

en:urocanase deficiency

•

en:decreased csf serine

•

en:widespread interstitial fibrosis (visceral organs)

•

en:methylmalonic aciduria

•

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

•

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

•

en:normal male karyotype (46,xy)

•

en:normal exocrine pancreatic function

•

en:normal csf neurotransmitters

•

en:normal apoa-ii levels in homozygotes

•

•

en:multiple tissue biopsies show lysosomal storage disease

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:microduplication of chromosome 5p13

•

en:methylmalonyl-coenzyme a mutase deficiency

•

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

•

en:normal transferrin isoelectric profile

•

en:low serum igg and iga

•

•

en:intracellular granular material on ultrastructural analysis

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:increased urinary isobutyryl glycine

•

en:increased urinary hga

•

en:increased urinary excretion of l-xylulose

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

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

•

en:increased urinary creatine

•

en:increased urinary adenosine

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:normal renin level

•

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

•

en:increased serum lactate during metabolic crisis

•

en:schirmer test shows alacrima

•

en:variably increased serum creatine kinase

•

en:variable hyperlipidemia

•

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

•

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

•

en:transient neonatal hypocalcemia (2p21del)

•

en:some fragmented or disrupted golgi

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

en:serum triglycerides normal

•

en:serum phosphate concentration below normal

•

en:serum ferritin hyperglycosylation

•

en:serum cholesterol raised

•

en:renin decreased

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

en:reduced serum uric acid

•

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

•

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:4-hydroxyphenylpyruvic aciduria

•

•

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

•

en:premature separation of centromeric heterochromatin

•

en:platelet antibody positive

•

en:plasma ammonia not elevated

•

en:persistent ebv viremia

•

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

•

en:increased serum methionine (reported in 2 cases)

•

en:proteinuria in those with cystic kidneys

•

en:increased serum iduronate sulfatase

•

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

•

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

•

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

•

en:decreased transcobalamin i in saliva, serum, gastric juice, and cerebrospinal fluid

•

en:decreased serum complement factor h

•

en:decreased serum bun

•

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

•

en:decreased fumarate hydratase activity

•

en:decreased dermal hydroxylysine content

•

en:decreased csf hypocretin

•

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

•

en:decreased activity of thiopurine s-methyltransferase

•

en:cutaneous anergy

•

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

•

en:creatine phosphokinase increased

•

en:creatine kinase levels may normalize with disease progression

•

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

•

•

en:aspartylglycosaminuria

•

en:antiphospholipid antibody

•

en:aminoaciduria (less common)

•

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

•

en:absent igg2 subclass

•

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

•

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

•

en:increased serum ferritin (in some patients)

•

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

•

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

•

en:elevated acth

•

en:hemoglobin f increased

•

en:increased plasma branched-chain fatty acids

•

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

•

en:increased lactate in spinal fluid

•

en:increased excretion of urobilinogen

•

en:increased d-glyceric acid in serum, urine, and csf

•

en:increased csf threonine

•

en:impaired mitochondrial translation

•

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

•

en:hyposialylation of o-linked serum glycans

•

en:hypogammaglobulinemia, profound

•

en:hyperchloremia (mean 109 mm)

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:increased creatine kinase (ck)

•

en:glycoamino aciduria

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:fibronectin decreased

•

en:elevated fibroblast free sialic acid

•

en:elevated il6

•

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

•

en:elevated serum iron and iron binding capacity

•

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

•

en:factor vii deficiency

•

en:fibrinogen decreased

•

en:fibroblasts are small and rounded with prominent nucleoli

•

en:hereditary angioedema

•

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

•

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

•

en:hyperchloremia (mean 114 mm)

•

en:hematuria (less common)

•

en:hypertriglyceridemia (in some patients)

•

en:impaired o-glycosylation

•

en:increased plasma vldl, ldl

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:increased csf homovanillic acid (hva)

•

en:increased csf lactate

•

en:increased disialotransferrin and asialotransferrin levels

•

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

•

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

•

en:increased serum bile acids

•

en:gm2-ganglioside accumulation

•

en:increased serum butyryl carnitine

•

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

•

en:deficiency of creatine phosphate in brain

•

en:glucose-6-phosphate deficiency

•

•

en:increased serum lactate in acute stage

•

en:decreased plasmalogens

•

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

•

en:decreased serum androgens

•

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

•

en:decreased whole blood serotonin

•

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

•

en:diffuse deposition of calcium oxalate in various tissues

•

en:folic acid deficiency

•

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

•

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

•

en:elevated liver transaminases

•

en:elevated plasma levels of lp(a)

•

en:elevated plasma methionine (methioninemia)

•

en:elevated serum protein

•

en:elevated sweat chloride (some)

•

en:elevated urinary hyaluronic acid levels

•

en:increased serum gamma-ggt (231950)

•

en:prolonged activated partial thromboplastin time (aptt)

•

en:increased serum lipoproteins

•

en:serum cholesterol low or normal

•

en:partial deficiency of factor xii(c)

•

en:patient cells show abnormal mitochondrial morphology

•

en:phosphaturia

•

en:pipecolic acid accumulation.

•

en:plasma aldosterone increased

•

en:protein total decreased

•

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

•

en:severe amyloid angiopathy

•

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

•

en:some cilia show abnormal beating patterns or immotility

•

en:t-cell deficit

•

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

•

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

•

en:undetectable plasma dbh activity

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:variable respiratory chain enzyme deficiency

•

en:no lactic acidosis

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:increased serum triglycerides (in some patients)

•

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

•

en:increased sodium-potassium pump activity

•

en:increased urinary 2-butanone

•

en:increased urinary 3-methylglutaconic acid

•

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

•

en:increased urinary urate

•

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

•

en:keratan sulfate excretion in urine that decreases with age

•

en:low apolipoprotein

•

en:no dicarboxylic aciduria

•

en:median mean platelet volume (mpv) 18fl

•

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

•

en:muscle and liver tissue show decreased activities of mitochondrial complexes i, ii, and iii

•

en:normal eosinophil peroxidase activity

•

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

•

en:normal isoelectric focusing of apolipoprotein ciii

•

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

•

en:normal serum creatine kinase

•

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

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6845697 • caches: c1=8 c2=1003 c3=1

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