Le Diko - en:increased hepatic parenchymal cell stainable iron

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Le Diko - en:increased hepatic parenchymal cell stainable iron

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en:increased hepatic parenchymal cell stainable iron

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:very low igg

•

en:normal parathyroid hormone (female)

•

en:mild elevation of triglycerides

•

en:abnormal liver enzymes during illness

•

en:amorphous hyaline substance (skin biopsy and visceral organs)

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:increased csf and plasma gaba

•

en:increased disialotransferrin and asialotransferrin levels

•

en:increased plasma and urinary pipecolic acid

•

en:increased serum lactate hydrogenase

•

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

•

en:presence of vacuoles on muscle biopsy

•

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

•

en:absent anti-insulin receptor antibodies

•

en:aminoaciduria (1 patient)

•

en:decreased apoa-i and apoa-ii

•

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

•

en:hemizygous deletion at 4p16.3

•

en:increased serum bile acids

•

en:increased urinary excretion of cystine

•

en:serum c-peptide and glucagon levels measurable

•

en:normal total urinary coproporphyrin

•

en:abnormal secretin test

•

en:serum osmolality decreased

•

en:proteinuria (type ii, congenital)

•

en:no cartilage staining with toluidine blue

•

en:abnormal liver function test

•

en:increased tissue levels of free fatty acids

•

en:deletion of chromosome 18p11.2

•

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

•

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

•

en:creatine kinase levels may normalize with disease progression

•

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

•

en:serum acid phosphatase normal

•

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

•

en:increased urinary isobutyryl glycine

•

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

•

en:proteinuria in those with cystic kidneys

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:multiple tissue biopsies show lysosomal storage disease

•

en:lactic acidosis

•

•

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

•

en:increased neopterin in urine and csf

•

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

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

en:hepatic argininosuccinase deficiency

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

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

•

en:aminoaciduria

•

en:decreased activity of galactocerebrosidase

•

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

•

en:decreased decr enzyme activity

•

en:decreased von willebrand factor

•

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

•

en:fibroblasts show increased sensitivity to apoptosis

•

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

•

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

•

en:decreased circulating renin level

•

en:increased serum lactate (in some patients)

•

en:hyperammonemia after protein intake

•

en:low or undetectable insulin

•

en:increased serum, urinary, and csf lysine

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:very low leptin level

•

en:galactosemia

•

en:elevated androstenedione

•

en:decreased nasal nitric oxide

•

en:decreased levels of plasma factor viii

•

en:abnormal liver enzymes, intermittent

•

en:chronic hypoxemia

•

en:chylomicronemia, refractory fasting

•

en:elevated urinary 2-ethylhydracrylate

•

en:high m-component

•

en:increased urinary prostaglandin e2

•

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

•

en:plasma catecholamines decreased

•

en:thyroid hormones increased

•

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

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:cutaneous anergy

•

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

•

en:generalized amyloid deposition

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

en:increased serum lactate in acute stage

•

en:increased urinary taurine

•

en:spongy degeneration of brain on histology

•

en:mitochondrial complex i deficiency in muscle

•

en:decreased axonal flare response after intradermal histamine injection

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

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

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:hypertriglyceridemia

•

en:elevated ammonia

•

en:decreased dna excision repair

•

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

•

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

•

en:decreased or absent ciliary motility

•

en:increased urinary 2-methylbutyryl glycine

•

en:acute-phase reactants during fever

•

en:increased serum thrombopoietin may occur

•

en:decreased serum ceruloplasmin

•

en:low absolute lymphocyte count

•

en:decreased levels of plasma vwf antigen

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:lack of lysosomal inclusions in visceral organs

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:decreased plasma glycine

•

en:increased serum alkaline phosphatase (in some patients)

•

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

•

en:cilia may also be static, with slow activity

•

en:serum chloride level decreased (finding)

•

en:poor mitogenic response to growth factors

•

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

•

en:normocalcemia

•

en:myoglobinuria

•

en:increased serum total cholesterol

•

en:decreased nk cells (in some patients)

•

en:elevated serum protein

•

en:glycogen storage disease type v

•

en:hepatic gamma-cystathionase deficiency

•

en:hyperlactemia

•

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

•

en:increased plasma homogentisic acid (hga)

•

en:normal or decreased serum potassium

•

en:normal maltase, isomaltase, and sucrase activity

•

en:deficiency or absence of p47-phox protein (type i)

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:hyperphosphatemia, transient

•

en:methylmalonyl-coenzyme a mutase deficiency

•

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

•

en:some cilia show abnormal beating patterns or immotility

•

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

•

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

•

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

•

en:normal to prolonged bleeding time

•

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

•

en:normal or increased serum creatine kinase

•

en:decreased plasma arginine

•

en:elevated serum iron and iron binding capacity

•

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

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:decreased metabolism of thiopurine drugs

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:reduced total and free carnitine in plasma and tissue

•

en:elevated sed rate

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:normal serum folate levels

•

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

•

en:urine uric acid decreased

•

en:tyrosine iodination defect

•

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

•

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

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

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

•

en:increased total bilirubin may occur

•

en:folate-dependent fragile site at xq28

•

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

•

en:deficiency of creatine phosphate in brain

•

en:low ldl cholesterol

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

en:5-oxoprolinase deficiency

•

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

•

en:sterol 27-hydroxylase deficiency

•

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

•

en:marked elevation of erythrocyte sedimentation rate

•

en:increased serum lysine (group b)

•

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

•

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

•

en:decreased numbers of t regulatory cells

•

en:cellular arrest at g2 of the cell cycle

•

en:hyperlysinemia

•

en:elevated sepiapterin in csf

•

en:hypoproteinemia due to hypercatabolism

•

en:increased plasma progastrin

•

en:increased serum lactate, particularly after exercise

•

en:increased uric acid with exercise

•

en:increased urinary hga

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:elevated urinary ornithine, lysine, arginine

•

en:methylmalonic aciduria

•

en:no mucopolysacchariduria

•

en:plasma protein c deficiency

•

•

en:lower total cholesterol

•

en:intermittent increase of urinary ethylmalonic acid

•

en:intracellular accumulation of unesterified cholesterol

•

en:low or absent growth hormone (gh)

•

en:low copper and ceruloplasmin

•

en:mildly elevated transaminases

•

en:low or absent prolactin (pl)

•

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

•

en:may have increased serum parathyroid hormone (pth)

•

en:methylenetetrahydrofolate reductase deficiency

•

en:microtubule disorganization in some cilia

•

en:increased urinary glutaric acid

•

en:mildly prolonged bleeding time 10-12 minutes

•

en:increased gamma-interferon

•

en:increased serum c26-bile-acid intermediates

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:increased urinary carnitine

•

en:increased urinary acetoacetic acid

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:increased serum vitamin b12

•

en:increased serum c-reactive protein, episodic

•

en:increased serum bilirubin due to hemolysis

•

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

•

en:increased serum beta-carotene

•

en:increased renal tubular phosphate reabsorption

•

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

•

en:increased levels of dihydroxyacetone phosphate (dhap) in tissues and red cells

•

en:increased il6, episodic

•

en:neonatal hypocalcemia

•

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

•

en:serum triglycerides increased

•

en:normal aldosterone

•

en:serum bicarbonate increased

•

en:4-hydroxyphenylactic aciduria

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:widespread interstitial fibrosis (visceral organs)

•

en:vitamin b12 deficiency (in some patients)

•

en:very long chain fatty acid accumulation

•

en:urinary excretion of sialylated oligosaccharides

•

en:tyrosinemia (transient, resolves in infancy)

•

en:transient eosinophilia in first decade

•

en:thyroid peroxidase defect

•

en:thyroid dyshormonogenesis 4

•

en:sweat test normal

•

en:shortened metaphase

•

en:incomplete n-glycosylation of cellular proteins

•

en:secondary decrease of plasma free carnitine

•

•

en:routine liver function tests normal

•

en:pseudohypertriglyceridemia in adult form

•

en:prolonged prothrombin and partial thromboplastin times

•

en:predominance of the d-stereoisomer

•

en:platelet aggregation decreased

•

en:phospholipid antibody positive

•

en:peroxisome deficiency

•

en:panhypogammaglobulinemia

•

en:normal sweat chloride (3 of 3 patients)

•

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

•

en:normal serum erythropoietin (epo, 133170)

•

en:normal serum 25-hydroxyvitamin d3

•

en:normal dermal hydroxylysine content

•

en:normal ciliary structure and function

•

en:increased csf homovanillic acid (hva)

•

en:elevated sweat chloride (some)

•

en:impaired o-glycosylation

•

en:antithrombin iii deficiency

•

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

•

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

•

en:decreased circulating cortisol level

•

en:decreased aminoacylase-1 activity

•

en:decreased adiponectin

•

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

•

en:decreased activities of multiple sulfatases

•

en:cytogenetic deletion of chromosome 17p13.3

•

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

•

en:coombs positive hemolytic anemia

•

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

•

en:cerebrospinal fluid oligoclonal bands

•

en:cells show increased sensitivity to ionizing radiation

•

en:antineutrophil cytoplasmic antibody

•

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

•

en:aminoaciduria (in some patients)

•

en:aldosterone concentration below normal

•

en:agammaglobulinemia

•

en:absence of outer dynein arms

•

en:abnormal serum glycoproteins

•

en:abnormal phosphatidylglycerol profile (increased 34-to-1 and decreased 36-to-1 ratio)

•

en:abnormal nuclear morphology

•

en:abnormal liver enzymes, intermittent (1 patient)

•

en:abnormal liver enzymes, episodic

•

en:aberrant gamma-interferon-mediated inflammation

•

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

•

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

•

en:abnormal liver function tests (sgot, sgpt)

•

en:decreased fbp1 enzyme activity

•

en:decreased or absent histidase activity

•

en:iiga and igg antigliadin antibodies (aga)

•

en:fasting hypoglycemia (early in disease course)

•

en:igg, decreased

•

en:hypouricemia

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

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

•

en:hereditary angioedema

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:hb h erythrocyte inclusions

•

en:glutathione deficiency

•

en:glutaric acidemia type 1

•

en:generalized aminoaciduria

•

en:gamma-glutamylcysteine deficiency

•

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

•

en:fumarase deficiency

•

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

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:elevated urinary 3-methylglutarate

•

en:elevated plasma citrulline (citrullinemia)

•

en:elevated plasma acth

•

en:elevated long chain fatty acids

•

en:elevated liver transaminases

•

en:elevated il6

•

en:elevated fasting triglycerides

•

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

•

en:elevated androstenedione and testosterone

•

en:elevated alkaline phosphatase

•

en:deficiency or absence of p91-phox protein

•

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

•

en:decreased t cells

•

en:decreased serum trypsinogen

•

en:abnormal isoelectric focusing of serum transferrin

•

en:direct hyperbilirubinemia

•

en:abnormal myelination in sural nerve biopsies

•

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

•

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

•

en:mild hyperammonemia

•

en:mildly increased serum lactate

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:microdeletion 22q11.2

•

en:low free carnitine

•

en:low 25-oh-vitamin d level

•

en:long-chain ketonuria

•

en:lactate high

•

en:lack of ciliary motility

•

en:ketonuria (1 patient)

•

en:keratan sulfate excretion in urine that decreases with age

•

en:isovaleric acidemia

•

en:iron binding capacity total increased

•

en:nephrotic syndrome

•

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

•

en:increased urinary fumaric acid

•

en:increased urinary free sialic acid (n-acetylneuraminic acid, 20-200x normal)

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:increased urinary adenosine

•

en:increased urinary 7-biopterin (primapterin)

•

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

•

en:increased serum thyrotropin

•

en:increased serum serotonin in 25%

•

en:increased serum ige

•

en:increased serum iduronate sulfatase

•

en:increased plasma vldl, ldl

•

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

•

en:normal activity of von willebrand factor-cleaving protease

•

en:increased osmotic fragility

•

en:pyruvate-induced insulin secretion

•

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

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

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

•

en:transient neonatal hypocalcemia (2p21del)

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

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

•

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

•

en:serum transferrin glycosylation is normal

•

en:serum testosterone level normal

•

en:serum iron normal

•

en:serum creatine kinase may be normal or increased

•

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:proper antibody response to protein vaccinations

•

en:normal baseline cortisol

•

en:prolonged prothrombin time (pt)

•

en:primary immunoglobulin-related amyloidosis (al)

•

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

•

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

•

en:plasma ammonia not elevated

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

en:partial deficiency of factor xii(c)

•

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

•

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

•

en:normal to mildly increased mucopolysacchariduria

•

en:normal serum creatine kinase

•

en:normal or mildly increased thyroid-stimulating hormone (tsh)

•

en:normal exocrine pancreatic function

•

en:normal calcium (female)

•

en:increased plasma phospholipids

•

en:thyroid hormone organification defect

•

en:increased lysine in serum and csf

•

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

•

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

•

en:defect in double-stranded dna repair

•

en:decreased switched memory b cells

•

en:decreased sulfite oxidase activity

•

en:decreased serum thiamine pyrophosphate

•

en:decreased serum cholesterol (in some)

•

en:decreased serum carnitine in acute stage

•

en:decreased scad activity

•

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

•

en:decreased or absent serum citrulline

•

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

•

en:decreased fibroblast beta-hexosaminidase

•

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

•

en:decreased cholesterol (less common)

•

en:echocardiogram abnormal

•

en:decreased beta-thromboglobulin

•

en:decreased activity of 2-oxoacid dehydrogenases

•

en:decreased acid beta galactosidase protein and activity

•

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

•

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

•

en:borderline elevated low-density lipoprotein

•

en:blood pyruvic acid increased

•

en:alpha ketoadipic aciduria

•

•

en:absent igg2 subclass

•

en:absence of cpt ii protein

•

en:abnormal transaminases (1 patient)

•

en:increased il1b increased soluble il2r

•

en:dilated rough endoplasmic reticulum (rer)

•

en:absence of cd59 expression on red cells

•

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

•

en:hyperprostaglandinuria

•

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

•

en:increased fibroblast free sialic acid

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:increased csf histidine

•

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

•

en:increased bile acid intermediates (dhca and thca)

•

en:increased 18-oxocortisol

•

en:impaired response to gm-csf

•

•

en:hypocalcemia, transient

•

en:hypobetalipoproteinemias

•

en:hyperuricuria

•

en:hypertriglyceridemia, transient

•

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

•

en:hypermethioninemia, progressive

•

en:hematuria, macroscopic and microscopic

•

en:elevated inflammatory markers

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:elevated plasma ornithine (~10-fold)

•

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

•

en:elevated 3-hydroxypropionic acid

•

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

•

en:high ornithine

•

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

•

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

•

en:hyperbilirubinemia in those with liver failure

•

en:hyperchloremia (mean 111 mm)

•

en:hypercholesterolemia

•

en:hypergammaglobulinemia

•

en:increased soluble il2 receptor

•

en:increased urinary 3-methylcrotonylglycine

•

en:increased urinary 3-oh-butyric acid

•

en:increased urinary citric acid cycle intermediates

•

en:low or normal serum calcium

•

en:increased urinary ketones

•

en:increased urinary sulfite

•

en:liver phosphorylase kinase (phk) deficiency

•

en:low maximal oxygen uptake on exercise testing

•

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

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:increased serum transferrin

•

en:igg deficiency

•

en:increased serum lactate (patient a)

•

en:increased serum direct bilirubin

•

en:increased serum creatine kinase in patients with muscle involvement

•

en:increased serum alpha-mannosidase

•

en:increased plasma free cholesterol

•

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

•

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

•

en:hypoglycemia, intermittent

•

en:hypertriglyceridemia (in some patients)

•

en:hyperinsulinemia

•

en:hypercholesterolemia (reported in 2 patients)

•

en:hyperarginemia

•

en:hyperammonemia

•

en:homozygous 122kb deletion 11p15-p14

•

en:low serum alkaline phosphatase in heterozygotes

•

en:neutral hyperaminoaciduria

•

en:low serum levels of branched-chain amino acids

•

en:phosphorylase kinase normal in muscle

•

en:high sister chromatid exchange (sce) rate

•

en:sce normal in heterozygotes

•

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

•

en:resistance to 1,25-dihydroxyvitamin d3

•

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

•

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

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:raised tsh level

•

en:prothrombin time low

•

en:protein urine absent

•

en:positive urine dnph screening test

•

en:phytanic acid increased

•

en:phosphaturia (in some)

•

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

•

en:pentagastrin stimulation test

•

en:serum alkaline phosphatase normal or mildly increased

•

en:oestradiol decreased

•

•

en:no increased sensitivity to oxidative species

•

en:normal urinary orotic acid

•

en:normal serum liver enzymes

•

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

•

en:normal-to-decreased plasma glycine (fasting)

•

en:myoglobinuria after exertion (in some patients)

•

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

•

en:mitochondria dna deletion

•

en:mildly elevated hepatic enzymes

•

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

•

en:decreased plasma free carnitine

•

en:high serum inosine levels

•

en:cd4+/cd8+ ratio is reversed

•

en:decreased galactokinase activity

•

en:decreased copper, iron, zinc

•

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

•

en:decreased c3 activity

•

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

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

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

•

en:decreased acid sphingomyelinase activity

•

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

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:chromosomal mosaicism in cultured cells

•

en:cd4/cd8 ratio decreased

•

en:bile contains cholesterol crystals

•

en:decreased methylcobalamin (mecbl)

•

en:ballooned neurons

•

en:antiribonuclear protein positive

•

en:aneuploidy of the x chromosome

•

en:anaphase loss or nondisjunction with trisomies, tetrasomies, monosomies

•

en:amylo-1,6-glucosidase deficiency

•

en:aminoaciduria (rare)

•

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

•

en:absence of chylomicrons in lymph and plasma

•

en:abnormal liver function tests (less common)

•

en:abnormal dystrophin on muscle biopsy

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:5-hiaa csf may be normal or decreased

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:decreased leptin

•

en:decreased or absent gch1 activity

•

en:high nonceruloplasmin-bound serum copper

•

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

•

en:hepatic argininosuccinate synthetase deficiency

•

en:hemoglobin f increased

•

en:hematuria (less common)

•

en:glycoamino aciduria

•

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:elevated urine unsulfated chondroitin sulfate

•

en:elevated serum transaminase levels

•

en:elevated serum levels of 2-prime deoxyadenosine

•

en:elevated plasma stigmasterol

•

en:elevated liver enzymes

•

en:elevated hepatic transaminases

•

en:elevated erythrocyte aicar (zmp)

•

en:decreased red cell pyruvate kinase activity

•

en:elevated ast and ldh, especially infantile-onset

•

en:elevated 3-methylcitric acid

•

en:electrolyturia (1 patient)

•

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

•

en:dermatan sulfate excretion in urine

•

•

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

•

en:defective bile acid metabolism

•

en:decreased uros activity (1 patient)

•

en:decreased udp-glcnac

•

en:decreased tissue total and free carnitine

•

en:decreased serum factor b (atypical hus)

•

en:decreased secretion of igf1 in response to gh administration

•

en:serum iron low (finding)

•

en:hypokalemia during attacks

•

en:severe hypernatremia in neonatal period

•

en:increased urinary excretion of camp

•

en:myelin basic protein measurement, spinal fluid

•

en:mildly elevated acth

•

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

•

en:low to very low hdl cholesterol

•

en:low serum uric acid

•

en:low serum alpha-fetoprotein (recessive)

•

en:low plasma arginine

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low cholesterol esterification rates

•

en:lactic acidemia

•

en:increased urinary tricarboxylic acid intermediates

•

en:increased urinary propionyl glycine

•

en:increased urinary and serum glycine

•

en:normal-elevated plasma testosterone (male range)

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:increased transferrin saturation (>60%)

•

en:increased serum glycerol

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased serum creatine kinase (patient a)

•

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

•

en:increased levels of carcinoembryonic antigen

•

en:increased erythropoietin

•

en:increased 11-deoxycorticosterone

•

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

•

en:inappropriately increased urine osmolality

•

en:immediate (type i) skin test reactivity

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:normal apoa-ii levels in homozygotes

•

en:hypogammaglobulinemia (in some patients)

•

en:reduced serum uric acid

•

en:structural abnormalities seen on chromosome analysis

•

en:xanthine nephrolithiasis

•

en:vitamin k deficiency

•

en:transcobalamin ii deficiency

•

en:thyroid dyshormonogenesis 5

•

en:t-cell deficit

•

en:severely decreased palmitate oxidation

•

en:serum lactate is usually normal

•

en:saposin a deficiency (finding)

•

en:rheumatoid factor negative

•

en:reticulocytosis

•

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

•

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

•

en:normal eosinophil peroxidase activity

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

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

•

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

•

en:platelet factor 4 decreased

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

en:patient cells show increased chromosome breakage

•

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

•

en:no hyperuricemia

•

en:normal urinary cyclic amp response to pth administration

•

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

•

en:normal plasma phytanic acid

•

en:normal or mildly reduced sphingomyelinase activity

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:hyponatremia in infancy

•

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

•

en:hypocalciuria or normocalciuria

•

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

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

en:decreased adenosylcobalamin

•

en:decreased activity of nadph oxidase

•

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

•

en:cystathionine beta-synthase deficiency disease

•

en:cortisol does not decrease on dexamethasone suppression test

•

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

•

en:ceruloplasmin decreased

•

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

•

en:bicarbonaturia

•

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

•

en:antineutrophil antibody positivity

•

en:aminoaciduria, intermittent

•

en:decreased fibroblast alpha-mannosidase

•

en:accumulation of cholesterol esters in various tissues

•

en:abnormal liver function tests (in some patients)

•

en:abnormal liver enzymes in those with hepatic cysts or fibrosis

•

en:abnormal liver enzymes (rare)

•

en:abnormal liver enzymes (1 patient)

•

en:abnormal lipid profile

•

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

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:abnormal cartilage collagen on em

•

en:abacterial leukocyturia

•

en:tay-sachs disease

•

en:submucosal macrophages filled with sphingolipids

•

en:hypoalbuminemia (in 83%)

•

en:decreased dermal hydroxylysine content

•

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

•

en:decreased glomerular filtration rate (gfr)

•

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

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:hepatic glycine cleavage defect

•

en:hypercholesterolemia (in 75%)

•

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

•

•

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

•

en:fragmentation of the mitochondrial network

•

en:fasting hyperinsulinemia

•

en:elevated serum transferrin saturation

•

en:elevated cerebrospinal fluid (csf) protein

•

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

•

en:elevated 8-dehydrocholesterol

•

en:elevated urinary 3-methylglutaconate

•

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

•

en:decreased serum leptin

•

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

•

en:decreased mitochondrial complex iii activity seen in muscle

•

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

•

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

•

en:decreased serum factor h (atypical hus)

•

en:decreased or normal serum factor i

•

en:decreased urinary hva, 5-hiaa, and vanillyl mandelic acid (vma)

•

en:diminished lymphocyte response to phytohemaglutinin

•

en:electrolyte disturbances from intractable diarrhea

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

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

•

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

•

en:intermittent dicarbonic aciduria

•

•

en:infantile hypophosphatasia

•

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

•

en:increased very-long chain fatty acids

•

en:increased urinary uracil

•

en:increased urinary glycosphingolipids, particularly globotriaosylceramide

•

en:increased urinary sulfatides

•

en:increased urinary n-acetylated amino acids

•

en:intermediate level of cellular sensitivity to uv light

•

en:increased csf interferon

•

en:increased urinary dihydropyrimidines

•

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

•

en:increased urinary catecholamines

•

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

•

en:increased serum prostaglandin e2

•

en:increased serum growth hormone levels

•

en:increased serum and urinary lactate

•

en:increased platelet aggregation with ristocetin

•

en:increased plasma pristanic acid

•

en:increased plasma creatine

•

en:increased lactate: pyruvate ratio (group b)

•

en:increased csf protein

•

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

•

en:ketonuria, acute

•

en:normal erythrocyte gs activity

•

en:liver enzymes abnormal

•

en:normal or mildly decreased arylsulfatase a activity

•

en:reduced bending capacity of cilia

•

en:increased blood alanine

•

en:reactive hypoglycemia

•

en:pyrimidinuria

•

en:premature chromosome condensation

•

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

•

en:plasma triglycerides increased

•

en:plasma aldosterone normal

•

en:parathyroid hormone level increased

•

en:normal serum phosphorus

•

en:normal prolyl 4-hydroxylase activity

•

en:normal plasma renin

•

en:normal igm levels

•

en:long-chain dicarboxylic aciduria

•

en:normal extrarenal responses to ddavp administration

•

en:normal complex ii activity

•

en:neutropenia (in 1 patient)

•

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

•

en:mild eosinophilia may occur

•

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

•

en:methylsuccinic aciduria

•

en:low serum magnesium

•

en:low rai (radioactive iodine) uptake

•

en:low plasma hdl

•

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

•

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

•

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

•

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

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:decreased activity of mitochondrial respiratory complexes

•

en:deficiency of phosphatidylinositol (4,5) bisphosphate 5-phosphatase (ptdins(4,5)p(2) 5-phosphatase) in cultured fibroblasts

•

en:defect in mitochondrial and peroxisomal fission

•

en:defect in dna repair

•

en:defective dna repair after ultraviolet radiation damage

•

en:decreased tetrasialotransferrin levels

•

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

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

en:decreased long-chain fatty acid oxidation

•

en:decreased lipid-linked oligosaccharides (llo)

•

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

•

en:decreased clot retraction

•

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

•

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

•

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

•

en:d-2-hydroxyglutaric aciduria

•

en:cystathioninuria (lab finding)

•

en:b lymphocytopenia

•

en:biotinidase deficiency

•

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

•

en:alkaline phosphatase serum increased

•

en:abnormal transferrin isoelectric focusing (ief)

•

en:abnormal serum transferrin pattern (in some patients)

•

en:abnormal n-glycosylation of transferrin

•

en:abnormal liver enzymes (in some patients)

•

en:4-hydroxyphenylacetic aciduria

•

en:reduced ige levels

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

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

•

en:impaired platelet aggregation

•

en:glycosuria (less common)

•

en:impaired mitochondrial translation

•

en:hyponatremic dehydration, rarely

•

en:hypoglycosylated serum transferrin

•

en:hypogammaglobulinemia, profound

•

en:hyperphosphatemia

•

en:hypermagnesiuria

•

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

•

en:hyperkalemia

•

en:hyperchloridura

•

en:hyperchloremia (mean 109 mm)

•

en:hyperalphalipoproteinemia

•

en:high plasma asparagine

•

en:glucose-6-phosphate deficiency

•

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

•

en:galactosylation defects

•

en:fibroblasts are small and rounded with prominent nucleoli

•

en:fasting chylomicronemia

•

en:exercise-induced myoglobinuria

•

en:ethylmalonic aciduria

•

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

•

en:elevated total iron-binding capacity

•

en:elevated serum insulin-to-c-peptide ratio

•

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

•

en:elevated gamma-glutamyltransferase

•

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

•

en:elevated 2-ketoglutarate (urine)

•

en:reduced erythrocyte adenosine deaminase activity

•

•

en:saccharopine dehydrogenase deficiency

•

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

•

en:low serum calcium

•

en:low serum acth

•

en:low level of c4 and c2

•

en:low-molecular-weight proteinuria

•

en:liver function tests normal

•

en:little to absent aspartylglucosaminuria activity

•

en:ketoacidosis

•

en:karyomegaly may be found in other visceral organs

•

en:iron overload (in some patients)

•

en:intermittent ethylmalonic aciduria

•

en:increased urinary succinic acid

•

en:increased urinary l-glycerate

•

en:markedly reduced igg levels

•

en:increased urinary hydroxyisovaleric acid

•

en:increased urinary dicarboxylic acid, transient

•

en:increased urinary 2-oxoglutaric acid

•

en:increased uracil and dihydrouracil in bodily fluids

•

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

•

en:increased serum pyruvate in acute stage

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:increased serum lactate (mild)

•

en:increased serum butyryl carnitine

•

en:increased serum ammonia (group b)

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:inclusion bodies (membrane-bound vacuoles) in fibroblasts

•

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

•

en:mean platelet volume (mpv) 12.6fl

•

en:hypoketotic hypoglycemia

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:undetectable plasma dbh activity

•

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

•

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

•

en:telomere shortening

•

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

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:serum triglycerides normal

•

en:serum pristanic acid increased

•

en:serum cholesterol raised

•

en:reduced unsaturated serum cobalamin binding capacity

•

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

•

en:polymorphonuclear leukocytosis, episodic

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:medium chain dicarboxylic aciduria

•

en:no ketonuria

•

en:no chromosomal breakage

•

en:serum calcium normal

•

en:normal to slightly elevated plasma cholesterol

•

en:normal male karyotype (46,xy)

•

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

•

en:normal igg levels

•

en:normal concentration of parathyroid hormone

•

en:myoglobinuria with extreme exertion

•

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

•

en:multiple autoantibodies

•

en:microduplication of chromosome 5p13

•

en:impairment of urinary concentration

•

en:normal tyrosinase

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:aminoaciduria (less common)

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

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

•

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

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

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

•

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

•

en:coagulopathy (inr = 2.2 - 3.5)

•

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

•

en:axonemes show normal structure

•

en:aspartylglycosaminuria

•

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

•

en:alkaline phosphatase normal

•

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

•

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

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

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

•

en:3-methylglutaconic aciduria

•

en:very low igm

•

en:urine osmolarity decreased

•

en:transferase deficiency galactosemia

•

en:thymic hormone decreased

•

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

•

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

•

en:serum cortisol elevated

•

en:hypercalciuria (in some patients)

•

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

•

en:abnormal oral glucose tolerance

•

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

•

en:elevated gamma-glutamyltransferase (ggt)

•

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

•

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

•

en:gonadotrophin increased

•

en:gaucher disease, type 1

•

en:galactosuria without galactosemia

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

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

•

en:elevated urinary and csf ribitol and d-arabitol

•

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

•

en:elevated propionate

•

en:elevated pregnenolone

•

en:elevated plasma insulin

•

en:elevated urinary phosphoethanolamine

•

en:elevated erythrocyte adenosine deaminase

•

en:defective dna repair

•

en:decreased serum bun

•

en:decreased plasminogen activity

•

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

•

en:decreased triiodothyronine level

•

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

•

en:decreased whole blood serotonin

•

en:defective glcnac-pi synthesis

•

en:defect in n- and o-glycosylation

•

en:deficient efflux of intracellular cholesterol

•

en:dermatan and heparan sulfate excretion in urine

•

en:elevated circulating parathyroid hormone (pth) level

•

en:immunoglobulin a decreased

•

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

•

en:increased disialo- and asialotransferrin

•

en:increased fractional excretion of uric acid

•

en:increased lactate in spinal fluid

•

en:hypoglycorrhachia (low glucose in csf)

•

en:increased prv-1 (162860) mrna

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:increased serum s-adenosylhomocysteine

•

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

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased serum pyruvate

•

en:increased urinary 2-ketoglutarate (variable)

•

en:increased urinary carnitine esters

•

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

•

en:hyperoxalaemia

•

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

•

en:hypoglycemia, fasting

•

en:elevated urine ceramide levels

•

en:hypercalciuria

•

en:factor viii deficiency

•

en:increased urinary organic acids (in some patients)

•

en:elevated levels of vitamin b12

•

en:elevated liver function tests

•

en:elevated plasma and urine succinylacetone

•

en:elevated plasma luteinizing hormone (lh)

•

en:elevated pth (parathyroid hormone)

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:fluorescence of red blood cells by uv microscopy

•

en:hydroxyprolinuria

•

en:foam cells in bone marrow and renal glomeruli

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:hereditary xanthinuria

•

en:high ft3/ft4 ratio

•

en:high serum osmolality

•

en:high sweat electrolyte

•

en:high urinary copper

•

en:homocystinemia

•

en:increased urinary neopterin

•

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

•

en:increased urinary sulfatide excretion

•

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

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:parathyroid hormone normal

•

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

•

en:pms show deficient oxidation of debrisoquine

•

en:raised c-reactive protein

•

en:renin decreased

•

en:round, yellow-brown dha urine crystals

•

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

•

en:normal serum phytanic and pristanic acid

•

en:serum aldosterone elevated

•

en:serum copper decreased

•

en:serum ferritin hyperglycosylation

•

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

•

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

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

en:upregulation of alpha-interferon-stimulated genes

•

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

•

en:no evidence of perinatal infection

•

en:normal serum parathyroid hormone (pth)

•

en:increased urinary thymine

•

en:low or absent luteinizing hormone (lh)

•

en:incresased urinary pyruvate

•

en:inner and outer dynein arm defects, variable

•

en:iodide organification defect

•

en:isochromosome often missing in lymphocyte

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:low apolipoprotein

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:normal serum cobalamin (vitamin b12)

•

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

•

en:methemoglobin concentration 12 to 19%

•

en:mild-moderate prolonged bleeding time

•

en:mildly elevated urinary mevalonic acid

•

en:neonatal hyperbilirubinemia

•

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

•

en:normal pyridinoline excretion in urine

•

en:normal serum biotin concentration

•

en:elevated il1-beta

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6880682 • caches: c1=8 c2=1003 c3=1

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