Diko : en:elevated sed rate

(id=6845841)

en:elevated sed rate

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C0151632

Inhib

⊗

›

fièvre

(surexcitation)

•

fièvre

(trouble de l'âme)

Associations d'idées

[F]

›

1000

en:increased creatine kinase level

•

en:reticulocytosis

•

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

•

en:hyposialylation of o-linked serum glycans

•

en:hyperlysinemia

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:decreased switched memory b cells

•

en:decreased or absent apolipoprotein a-i

•

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

•

en:phenytoin level high

•

en:increased adrenal cortical hormone level

•

en:high heavy metal level in blood

•

en:thyroid hormones increased

•

en:methylmalonic aciduria, mild

•

en:increased urinary vanillylmandelic acid (vma)

•

en:increased urinary thiosulfate

•

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

•

en:increased iga level

•

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

•

en:galactosuria without galactosemia

•

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

•

en:anti-iga antibodies commonly present

•

en:amylo-1,6-glucosidase deficiency

•

en:blast cells absent

•

en:increased amino acid

•

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

•

en:severe amyloid angiopathy

•

en:normal apoa-ii levels in homozygotes

•

en:increased urinary hydroxyisovaleric acid

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:increased csf lactate

•

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

•

en:elevated erythrocyte sedimentation rate (esr)

•

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

•

en:elevated alpha-ketoglutarate (in most patients)

•

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

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:decreased intracellular fmr protein

•

en:abnormal serum transferrin pattern by isoelectric focusing (hyposialylation)

•

en:tearing

•

en:chaddock's reflex

•

en:tyrosinemia (transient, resolves in infancy)

•

en:increased serum growth hormone levels

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

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

•

en:decreased plasminogen antigen

•

en:decreased cerebrospinal fluid folic acid

•

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

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:pyrogenic reaction

•

en:blood viscosity abnormal

•

en:nonspecific findings on examination of blood

•

en:increased melanocyte stimulating hormone level

•

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

•

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

•

en:positive antinuclear antibody test

•

en:march myoglobinuria

•

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

•

en:increased urinary malic acid

•

en:increased urinary glycerol

•

en:increased serum erythropoietin (epo, 133170)

•

en:hypogammaglobulinemia, profound

•

en:elevated total bilirubin

•

en:elevated serum uric acid concentrations

•

en:decreased plasma esterified cholesterol

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

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

•

en:propionic acidemia

•

en:no chromosome breakage

•

en:increased urinary phospholipids

•

en:increased urinary catecholamines

•

en:increased serum c-reactive protein, episodic

•

en:hypokalemia during attacks

•

en:hyperphosphatemia, transient

•

en:hypergammaglobulinemia

•

en:fibroblasts show decreased mitochondrial complex v activity

•

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

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:decreased plasma lpl levels (in some patients)

•

en:some fragmented or disrupted golgi

•

en:normal transferrin isoelectric profile

•

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

•

en:low or low-normal serum t4

•

en:increased serum creatine kinase (1 family)

•

en:increased plasma vldl, ldl

•

en:increased csf interferon

•

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

•

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

•

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

•

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

•

en:decreased serum luteinizing hormone (lh)

•

en:decreased platelet derived growth factor

•

en:absent igg2 subclass

•

en:increased human chorionic gonadotropin level

•

en:proteinuria (type ii, congenital)

•

en:prolonged partial thromboplastin time

•

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

•

en:normal iga levels

•

en:increased urine porphyrins at times

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

en:glycinuria

•

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

•

en:exercise-induced myoglobinuria in adults

•

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

•

en:absent-decreased prolyl 3-hydroxylation at collagen i alpha-1 pro986

•

en:absence of outer dynein arms

•

en:hypothermia adverse event

•

en:pleural fluid cells increased

•

en:urine odor, maple syrup

•

en:serum testosterone level normal

•

en:low plasma arginine

•

en:long-chain ketonuria

•

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

•

en:homocystinuria

•

en:homocitrullinuria

•

en:foam cells in visceral organs and cns

•

en:decreased plasma and urinary ornithine

•

en:decreased levels of the e2 subunit protein

•

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

•

en:calciuria

•

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

•

en:abnormal nasal potential difference

•

en:abnormality of the heme biosynthetic pathway

•

en:increased lead level

•

en:isovalerylglycinuria

•

en:indirect bilirubin increased

•

en:increased urinary, plasma, and csf dihydrouracil

•

en:ferritin decreased

•

en:farber lipogranulomatosis

•

en:decrease plasma serine (fasting)

•

en:decreased serum 25-hydroxyvitamin d

•

en:chylomicronemia, refractory fasting

•

en:absent ch50 activity in complete c4 deficiency

•

en:named sign of gallbladder

•

en:thrombocytosis (in some patients)

•

en:spongy degeneration of brain on histology

•

en:positive urinary bratton-marshall test

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

en:myelin basic protein measurement, spinal fluid

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:increased disialotransferrin and asialotransferrin levels

•

en:increased csf homovanillic acid (hva)

•

en:elevated serum protein

•

en:elevated serum long-chain fatty acids

•

en:elevated androstenedione

•

en:deficiency of fructokinase

•

en:acute hyperammonemia

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

en:autoinflammation, lipodystrophy and dermatosis syndrome

•

en:increased cancer antigen 125

•

en:thrombocytopenia

•

en:increased ammonia with exercise

•

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

•

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

•

en:decreased mitochondrial complex iii activity in muscle

•

en:chronic hypercapnia

•

en:tenderness

•

en:mcv - raised

•

en:vacuolated lymphocytes

•

en:tryptophanuria

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:occasional hypomagnesemia

•

en:normal sweat electrolytes

•

en:normal serum folate levels

•

en:little to absent aspartylglucosaminuria activity

•

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

•

en:high plasma citrulline (1000-5000 micromolar)

•

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

•

en:glucose-6-phosphate deficiency

•

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

•

en:elevated free carnitine

•

en:elevated 8-dehydrocholesterol

•

en:decreased serum complement factor h

•

en:blood erythropoietin

•

en:neutrophilia

•

en:named sign of foot

•

en:transferase deficiency galactosemia

•

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

•

en:myopathy with type i fiber atrophy on muscle biopsy

•

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

•

en:karyotype analysis normal finding

•

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

•

en:increased serum uric acid

•

en:hyperphenylalaninemia

•

en:hypercholesterolemia (in 75%)

•

en:elevated prothrombin time

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:deletion of chromosome 18p11.2

•

en:defects in mitochondrial oxidative phosphorylation

•

en:decreased serum haptoglobin (in some patients)

•

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

•

en:viremia

•

en:weight loss

•

en:cerebrospinal fluid: protein - increased ++

•

en:type 1 collagen overmodification

•

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

•

en:persistent ebv viremia

•

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

•

en:large spermatozoa

•

en:isochromosome often missing in lymphocyte

•

en:increased serum beta-hexosaminidase

•

en:hyperalphalipoproteinemia

•

en:hemizygous deletion at 7q11.23

•

en:gm2-ganglioside accumulation

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

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

•

en:decreased serum free thyroxine

•

en:decreased neopterin and biopterin in urine

•

en:decreased activity of the pyruvate dehydrogenase (pdh) complex

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

en:severe hypernatremia in neonatal period

•

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

•

en:low plasma hdl

•

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

•

en:hypoproteinemia

•

en:folate-dependent fragile site at xq28

•

en:electrolyturia (1 patient)

•

en:decreased hdl cholesterol

•

en:elevated erythrocyte sedimentation rate and abnormality of plasma viscosity

•

en:raised prostate specific antigen

•

en:named sign of coordination

•

en:lithium level high - toxic

•

en:increased vitamin k

•

en:increased polypeptide hormone level

•

en:increased lipid

•

en:increased human growth hormone level

•

en:increased adenylic acid

•

en:increased ad7c neuronal thread protein concentration in cerebrospinal fluid

•

en:hutchinson's sign

•

en:vitamin b12 deficiency (uncommon)

•

en:very low leptin level

•

en:variable hyperlipidemia

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:translocation of chromosomes 9 and 13

•

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

•

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

•

en:telomere shortening

•

en:t-cell deficit

•

en:some cilia show abnormal beating patterns or immotility

•

en:severely decreased palmitate oxidation

•

en:serum lactate is usually normal

•

en:serum cortisol decreased

•

en:serum cholesterol low or normal

•

en:secondary decreases in complex i and iv activity

•

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

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:raised c-reactive protein

•

en:protein total decreased

•

en:proteinuria

•

en:proper antibody response to protein vaccinations

•

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

•

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

•

en:polymorphonuclear leukocytosis, episodic

•

en:patient cells show increased chromosome breakage

•

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

•

en:partial deficiency of factor xii(c)

•

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

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

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

•

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

•

en:normal lysyl hydroxylase activity

•

en:normal lactate (hcs)

•

en:normal exocrine pancreatic function

•

en:normal csf 5-hiaa

•

en:normal cerebrospinal fluid

•

en:normal axonal flare response after intradermal histamine injection

•

en:neutropenia

•

en:neonatal hyperbilirubinemia

•

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

•

en:myoglobinuria with extreme exertion

•

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

•

en:mild to moderate hyperammonemia

•

en:mild elevation of triglycerides

•

en:mildly elevated acth

•

en:microduplication of chromosome 5p13

•

en:methylglutaconic aciduria, mild

•

en:methioninuria

•

en:metachromasia of white blood cells and fibroblasts

•

en:medium chain dicarboxylic aciduria

•

en:median mean platelet volume 13fl

•

en:marked hypobetalipoproteinemia

•

en:markedly increased serum creatine kinase

•

en:low to normal serum calcium

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low acth level

•

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

•

en:low-molecular-weight proteinuria

•

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

•

en:lactate high

•

en:lack of ciliary motility

•

en:keratan sulfate excretion in urine that decreases with age

•

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

•

en:iodide organification defect

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:indirect hyperbilirubinemia

•

en:increased urine vanillactic acid (vla)

•

en:increased urinary o-linked sialopeptides

•

en:increased urinary isobutyryl glycine

•

en:increased urinary excretion of camp

•

en:increased urinary dicarboxylic acid, transient

•

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

•

en:increased urinary 2-methylbutyrylglycine

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:increased tissue long-chain fatty acids

•

en:increased tissue levels of triglycerides

•

en:increased serum serotonin in 25%

•

en:increased serum methionine (reported in 2 cases)

•

en:increased serum lactate during metabolic crisis

•

en:increased plasma phospholipids

•

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

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:increased il1b increased soluble il2r

•

en:increased csf and plasma gaba

•

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

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:increased 11-deoxycortisol

•

en:impaired o-glycosylation

•

en:immotile cilia

•

en:hypoxia

•

en:hypoglycemia

•

en:hypofibrinogenemia

•

en:hypocalcemia (64% of adults)

•

en:hyperuricosuria

•

en:hyperkalemia

•

en:hypercholesterolemia (disorder)

•

en:hla-dqw6 association (dqb1*0602)

•

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

•

en:hepatic gamma-cystathionase deficiency

•

en:hemoglobin f increased

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:gamma-glutamylcysteine deficiency

•

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

•

en:elevated urine unsulfated chondroitin sulfate

•

en:elevated urinary 3-methylglutarate

•

en:elevated serum iron and iron binding capacity

•

en:elevated lathosterol

•

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

•

en:elevated 7-dehydrocholesterol

•

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

•

en:deficiency of serum properdin p factor

•

en:deficiency of creatine phosphate in brain

•

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

•

en:decreased sulfite oxidase activity

•

en:decreased serum iron (in some patients)

•

en:decreased serum haptoglobin

•

en:decreased phk activity in liver

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:decreased or absent serum citrulline

•

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

•

en:decreased mitochondrial complex iii activity seen in muscle

•

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

•

en:decreased methylmalonyl-coa mutase activity

•

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

•

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

•

en:decreased csf hypocretin

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:decreased activity of mitochondrial respiratory chain complex i

•

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

•

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

•

en:csf pleocytosis, particularly of lymphocytes

•

en:creatine kinase levels may normalize with disease progression

•

en:cilia may also be static, with slow activity

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

en:antiphospholipid antibody

•

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

•

en:aminoaciduria (less common)

•

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

•

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

•

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

•

en:acylglycinuria

•

en:accumulation of cholesterol esters in various tissues

•

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

•

en:abnormal transaminases (1 patient)

•

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

•

en:4-hydroxyphenylpyruvic aciduria

•

en:suffocation

•

en:prostration

•

en:hyperactivity

•

en:enlarging abdomen

•

en:aphasia

•

en:akathisia

•

en:glutathione decreased

•

en:blood erythropoietin decreased

•

en:blast cell count increased

•

en:hemorrhage

•

en:packed cell volume increased

•

en:named sign of hip

•

en:named sign of hand

•

en:named sign of balance

•

en:increased protein hormone level

•

en:increased ketone bodies

•

en:increased glucagon level

•

en:increased corticosterone level

•

en:increased ad7c neuronal thread protein concentration in urine

•

en:increased 17-ketogenic steroids level

•

en:hyperviscosity

•

en:high catecholamine level in urine

•

en:cinema sign

•

en:associated sign

•

en:vitamin b12 deficiency (in some patients)

•

en:very low igm

•

en:type i, classic, decreased antithrombin iii levels

•

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

•

en:tay-sachs disease

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:serum lactate may be increased during encephalopathic exacerbations

•

en:serum cortisol elevated

•

en:serum corticosterone increased

•

en:serum chloride level decreased (finding)

•

en:reduced platelet glycoprotein ib complex

•

en:reduced bending capacity of cilia

•

en:protein urine absent

•

en:positive kveim-siltzbach skin test

•

en:platelet function test normal

•

en:plasma triglycerides increased

•

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

•

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

•

en:parathyroid hormone level increased

•

en:p5c levels increased in urine

•

en:osteocalcin increased

•

en:oligospermia or azoospermia

•

en:no increase of muscle lactate with ischemic exercise testing

•

en:no elevation of free fatty acids

•

en:normal to increased plasma threonine

•

en:normal serum 25-hydroxyvitamin d3

•

en:normal or mildly decreased arylsulfatase a activity

•

en:normal or increased serum phytanic acid

•

en:normal isoelectric focusing of serum transferrin

•

en:normal dermal hydroxylysine content

•

en:neonatal hypocalcemia

•

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

•

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

•

en:mitochondria dna deletion

•

en:mildly elevated blood ammonia

•

en:microscopic hematuria

•

en:median mean platelet volume (mpv) 12.5fl

•

en:may have increased serum parathyroid hormone (pth)

•

en:low or undetectable insulin

•

en:low maximal oxygen uptake on exercise testing

•

en:low leukocyte alkaline phosphatase activity

•

en:low csf creatinine

•

en:low copper and ceruloplasmin

•

en:low-to-normal csf lactate

•

en:intracellular accumulation of unesterified cholesterol

•

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

•

en:intermediate level of cellular sensitivity to uv light

•

en:increased urinary sulfite

•

en:increased urinary sialylglycopeptides

•

en:increased urinary magnesium

•

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

•

en:increased urinary 3-methylcrotonylglycine

•

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

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased serum direct bilirubin

•

en:increased serum creatine kinase in patients with muscle involvement

•

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

•

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

•

en:increased serum beta-carotene

•

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

•

en:increased pristanic acid

•

en:increased plasma renin activity

•

en:increased plasma homogentisic acid (hga)

•

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

•

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

•

en:increased interleukin 10

•

en:increased il6, episodic

•

en:increased igg level

•

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

•

en:increased csf and plasma ghb

•

en:increased ck-mb

•

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

•

en:impairment of urinary concentration

•

en:impaired oxidation of pyruvate

•

en:impaired carnitine uptake in muscle, heart, kidney, fibroblasts, and lymphocytes

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:hypobetalipoproteinemias

•

en:hyperuricuria

•

en:hyperprolinemia (5-10 times normal)

•

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

•

en:high urinary copper

•

en:high serum guanosine levels

•

en:hepatic glycine cleavage defect

•

en:hemophilia b

•

en:green serum

•

en:glyoxalase deficiency

•

en:glycosuria

•

en:elevated serum parathyroid hormone (pth) level

•

en:elevated serum levels of adenosine

•

en:elevated il6

•

en:elevated erythrocyte aicar (zmp)

•

en:elevated csf glycine

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

en:deficient plasma alpha-lecithin:cholesterol acyltransferase (high-density) activity

•

en:defect in mitochondrial and peroxisomal fission

•

en:defective mitochondrial respiratory enzyme activity

•

en:decreased xanthine dehydrogenase activity

•

en:decreased serum trypsinogen

•

en:decreased serum rt3

•

en:decreased serum levels of maoa products

•

en:decreased plasma free carnitine

•

en:decreased or absent serum ceruloplasmin

•

en:decreased or absent pts activity

•

en:decreased or absent dihydropteridine reductase activity

•

en:decreased or absent ciliary motility

•

en:decreased neopterin and biopterin in csf

•

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

•

en:decreased eno3 activity

•

en:decreased decr enzyme activity

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

en:decreased csf homovanillic acid (hva)

•

en:decreased ciliary motility

•

en:decreased activity of tyrosine hydroxylase

•

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

•

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

•

en:decreased activity of 2-methyl-3-hydroxybutyryl co-a dehydrogenase

•

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

•

en:cystathioninuria (lab finding)

•

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

•

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

•

en:bilirubin conjugated increased

•

en:bile contains cholesterol crystals

•

en:antiribonuclear protein positive

•

en:aminoaciduria (in some patients)

•

en:alkaline phosphatase serum increased

•

en:albuminuria

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

en:absent platelet agglutination in presence of ristocetin

•

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

•

en:abnormal serum liver enzyme levels

•

en:abnormal n-glycosylation of transferrin

•

en:abnormal liver function tests (less common)

•

en:abnormal igfr1 function

•

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

•

en:restlessness

•

en:decreased core body temperature

•

en:abnormal pigmentation

•

en:abnormal sweat homeostasis

•

en:unexpected therapeutic effect

•

en:nose hemorrhage adverse event

•

en:low erythrocyte sedimentation rate

•

vitesse de sédimentation des érythrocytes élevée

•

en:serum amylase increased

•

en:popeye sign

•

en:phenobarbitone level high

•

en:o/e - localization of sign

•

en:increase of specific gravity

•

en:increased pantothenic acid

•

en:increased homogentisic acid

•

en:chadwick's sign

•

en:alt (sgpt) level raised

•

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

•

en:urine cortisol, increased

•

en:uric acid normal

•

en:upregulation of alpha-interferon-stimulated genes

•

en:undetectable plasma dbh activity

•

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

•

en:thyroid hormone organification defect

•

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

•

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

•

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

•

en:serum prolactin increased

•

en:reduced erythrocyte glucose/hexose transport

•

en:prothrombin time increased

•

en:prolonged prothrombin time (pt)

•

en:plasma ammonia not elevated

•

en:pipecolic acid accumulation.

•

en:pink urine

•

en:phosphaturia may disappear after a long period of time

•

en:phosphaturia

•

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

•

en:partial deficiency of factor xiii (less common)

•

en:pancreatic trypsinogen deficiency

•

en:no evidence of common prenatal infections

•

en:normal tyrosinase

•

en:normal lysl hydroxylase activity

•

en:normal-elevated plasma testosterone (male range)

•

en:neutrophilia, both basal and during infections

•

en:nephrotic syndrome

•

en:mildly increased serum lactate

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:lysine-ketoglutarate reductase deficiency

•

en:low to low-normal magnesium

•

en:low serum alpha-fetoprotein (recessive)

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:low density lipoprotein increased

•

en:low csf creatine

•

en:low apolipoprotein

•

en:lactic acidosis

•

en:increased urinary urate

•

en:increased urinary neopterin

•

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

•

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

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:increased susceptibility to ebv infection

•

en:increased serum ferritin (in some patients)

•

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

•

en:increased serum acylcarnitine during febrile crisis

•

en:increased serum, urinary, and csf lysine

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased rai (radioactive iodine) uptake

•

en:increased plasma lactate

•

en:increased lysine in serum and csf

•

en:increased interferon-alpha signal

•

en:increased csf protein

•

en:increased creatine kinase (ck)

•

en:increased biliverdin in bodily fluids

•

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

•

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

•

en:impaired creatine uptake in fibroblasts

•

en:hyponatremia

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:hypoglycosylated serum transferrin

•

en:hypocalciuria

•

en:hyperphosphatemia

•

en:hyperglutaminemia

•

en:hypercholesterolemia (reported in 2 patients)

•

en:homocysteinemia (in some patients)

•

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

•

en:high plasma asparagine

•

en:green urine

•

en:granular osmiophilic deposits (grod) in cells

•

en:fumarase deficiency

•

en:fibronectin decreased

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

en:fibrinogen decreased

•

en:fasting chylomicronemia

•

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

•

en:elevated serum parathyroid hormone (pth)

•

en:elevated pregnenolone

•

en:elevated plasma insulin

•

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

•

en:elevated erythrocyte adenosine deaminase

•

en:elevated calcitonin

•

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

•

en:elevated afp (endodermal sinus tumor)

•

en:distal xp22.3 segmental monosomy

•

en:dilated rough endoplasmic reticulum (rer)

•

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

•

en:defect in n- and o-glycosylation

•

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

•

en:decreased serum iga

•

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

•

en:decreased serum 18-ohb

•

en:decreased plasminogen activity

•

en:decreased or normal serum factor i

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:decreased hepatic udp-glucuronyl-transferase activity

•

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

•

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

•

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

•

en:decreased circulating renin level

•

en:decreased c3 antigen

•

en:decreased beta-thromboglobulin

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:decreased adenosylcobalamin

•

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

•

en:cholesterol normal

•

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

•

en:argininosuccinic aciduria

•

en:anti-factor viii positive

•

en:acth normal

•

en:absent dystrophin on muscle biopsy

•

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

•

en:abnormal liver enzymes, intermittent

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:abetalipoproteinemia (lab finding)

•

en:2-aminoadipic aciduria

•

en:shivering

•

en:obesity

•

en:mediastinal shift

•

en:incontinence

•

en:cyanotic attacks in children

•

en:coprophagia

•

en:increased blood viscosity (finding)

•

en:blood glucose abnormal

•

en:abnormality of vitamin metabolism

•

en:abnormality of carboxylic acid metabolism

•

en:increased antibody level in blood

•

en:hypoxia adverse event

•

en:edema limbs

•

en:serum acid phosphatase raised

•

en:raised cardiac enzyme or marker

•

en:radioactive iodine uptake above reference range

•

en:pancreatic sign

•

en:increased pancreatic lipase

•

en:high troponin i level

•

en:empty delta sign

•

en:elevated liver enzymes level

•

en:widespread interstitial fibrosis (visceral organs)

•

en:urinary excretion of sialylated oligosaccharides

•

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

•

en:transaminitis

•

en:t-lymphocytopenia

•

en:serum creatine kinase may be normal or elevated

•

en:serum creatine kinase may be increased

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:rheumatoid factor positive (finding)

•

en:reticulocyte count increased

•

en:reduced ferrochelatase activity

•

en:reduced erythrocyte gs activity

•

en:pseudohypertriglyceridemia in adult form

•

en:prominent leukocytosis (30,000/ml)

•

en:prolonged bleeding time

•

en:positive urine dnph screening test

•

en:phospholipid antibody positive

•

en:oestradiol decreased

•

en:no ketosis

•

en:normal transferrin saturation

•

en:normal to elevated total plasma carnitine

•

en:normal serum bile acids

•

en:normal red cell counts

•

en:normal or mildly increased serum creatine kinase

•

en:normal arterial oxygen saturation

•

en:mild hypertriglyceridemia

•

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

•

en:lysosomal-like storage vacuoles in various tissues

•

en:low or normal serum calcium

•

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

•

en:kypokalemia

•

en:ketoses, metabolic

•

en:keratan sulfaturia in some patients

•

en:intermittent increase of urinary ethylmalonic acid

•

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

•

en:increased urinary mannose-containing oligosaccharides

•

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

•

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

•

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

•

en:increased tissue long-chain acylcarnitines

•

en:increased serum transferrin

•

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

•

en:increased serum methionine

•

en:increased serum lysine (group b)

•

en:increased serum levels of free plasma thyroid hormones

•

en:increased serum fgf23

•

en:increased pyruvate in serum and csf

•

en:increased plasma free cholesterol

•

en:increased di- and asialo-transferrin

•

en:increased biopterin in urine and csf

•

en:hypophosphatemia (less common)

•

en:hyponatremia in infancy

•

en:hypokalemia occurs during paralytic attacks

•

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

•

en:homocysteinemia

•

en:hereditary factor x deficiency

•

en:hawkinsinuria

•

en:hair bulbs will pigment when incubated with tyrosine

•

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

•

en:fibroblasts shows defects in oxidative phosphorylation

•

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

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

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

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:elevated plasma citrulline (citrullinemia)

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

en:elevated plasma alloisoleucine

•

en:elevated plasma acth

•

en:elevated gamma-glutamyltransferase

•

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

•

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

•

en:elevated androstenedione and testosterone

•

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

•

en:dyslipidemia

•

en:di- and trihydroxycholestanoic acid accumulation

•

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

•

en:defect in dna repair

•

en:decreased urinary excretion of uromodulin

•

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

•

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

•

en:decreased serum glucosyltransferase (ggt) activity

•

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

•

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

•

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

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased copper, iron, zinc

•

en:decreased complement factor d

•

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

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

en:decreased acid sphingomyelinase activity

•

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

•

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

•

en:bone marrow hypoplasia (in some patients)

•

en:blood urea nitrogen increased

•

en:ballooned neurons

•

en:agammaglobulinemia

•

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

•

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

•

en:4-hydroxyphenyllactic aciduria

•

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

•

en:syncope

•

en:membrane breakage

•

en:hypohidrosis

•

en:below normal body height

•

en:negative schumm test

•

en:abnormal enzyme/coenzyme activity

•

en:abnormality of nucleobase metabolism

•

en:abnormality of fluid regulation

•

en:heinz body

•

en:cyanosis

•

en:apnea adverse event

•

en:laboratory abnormalities

•

en:elevated sedimentation rate

•

en:familial mediterranean fever

•

en:valproate level high

•

en:spurling sign

•

en:shrug sign

•

en:named sign of joint

•

en:named sign of anus

•

en:increased vitamin b

•

en:increased secretin level

•

en:increased beta amino isobutyric acid

•

en:high lipase level in serum

•

en:high alcohol level in blood

•

en:carbamazepine level high

•

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

•

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

•

en:t cells may be increased or decreased

•

en:tyrosine iodination defect

•

en:transient neonatal hypocalcemia (2p21del)

•

en:thyroid dyshormonogenesis 5

•

en:thyroid dyshormonogenesis 3

•

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

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:severely decreased antigen levels of vwf and factor viii

•

en:serum pristanic acid increased

•

en:serum iron normal

•

en:serum creatine kinase may be normal

•

en:serum copper decreased

•

en:serum c-reactive protein may be increased

•

en:schirmer test shows alacrima

•

en:round, yellow-brown dha urine crystals

•

en:renin decreased

•

en:reduced platelet aggregation response to collagen and thrombin

•

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

•

en:phosphorylase kinase deficiency in liver and muscle

•

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

•

en:no lactic acidosis

•

en:no ketonuria

•

en:normal urinary cyclic amp response to pth administration

•

en:normal serum phytanic and pristanic acid

•

en:normal serum parathyroid hormone (pth)

•

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

•

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

•

en:normal free urinary cortisol

•

en:n-glycosylation defect

•

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

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:methemoglobin concentration 12 to 19%

•

en:low or normal serum erythropoietin

•

en:low or absent luteinizing hormone (lh)

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:liver transaminases normal to slightly increased

•

en:iron overload (in some patients)

•

en:intracellular granular material on ultrastructural analysis

•

en:increased urinary s-sulfocysteine

•

en:increased urinary propionyl glycine

•

en:increased urinary organic acids (in some patients)

•

en:increased urinary methylcitrate

•

en:increased urinary carnitine esters

•

en:increased urinary and serum glycine

•

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

•

en:increased serum triglycerides (in some patients)

•

en:increased serum thyrotropin

•

en:increased serum iduronate sulfatase

•

en:increased serum deoxyuridine

•

en:increased serum creatine kinase (patient a)

•

en:increased serum ammonia (group b)

•

en:increased prevalence among the native american lumbee indians

•

en:increased plasma proinsulin

•

en:increased levels of carcinoembryonic antigen

•

en:increased lactate in spinal fluid

•

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

•

en:increased intracellular fmrp mrna

•

en:increased il-8

•

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

•

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

•

en:increased ferritin

•

en:increased excretion of urobilinogen

•

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

•

en:increased circulating renin level

•

en:increased cholesterol

•

en:hypertriglyceridemia (in some patients)

•

en:hyperthreoninemia

•

en:hyperchloremia (mean 114 mm)

•

en:hypercalcemia

•

en:homozygous 122kb deletion 11p15-p14

•

en:high ebv viral load

•

en:heparin cofactor ii deficiency (disorder)

•

en:hematuria, gross and microscopic

•

en:hb h erythrocyte inclusions

•

en:folic acid deficiency

•

en:female carriers show markedly skewed x inactivation

•

en:ethylmalonic aciduria

•

en:epstein-barr viraemia

•

en:eosinophilia

•

en:elevated resting serum lactate, increased with exercise

•

en:elevated pth (parathyroid hormone)

•

en:elevated plasma ornithine (~10-fold)

•

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

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:elevated gamma-glutamyltransferase (ggt)

•

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

•

en:elevated crp

•

en:dolichyl-p-man:man(5)glcnac(2)-pp-dolichyl mannosyltransferase deficiency

•

en:direct hyperbilirubinemia

•

en:dhea sulfotransferase below limit of detection

•

en:deficient efflux of intracellular cholesterol

•

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

•

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

•

en:decreased serum thiamine pyrophosphate

•

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

•

en:decreased serum carnitine in acute stage

•

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

•

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

•

en:decreased plasma apolipoprotein c-ii

•

en:decreased numbers of t regulatory cells

•

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

•

en:decreased fibroblast alpha-mannosidase

•

en:decreased erythrocyte plasmalogen

•

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

•

en:decreased-absent intestinal mucosa lactase activity

•

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

•

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

•

en:cd4+/cd8+ ratio often reversed

•

en:borderline elevated low-density lipoprotein

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

en:blood pyruvic acid increased

•

en:bleeding time normal

•

en:bilirubin may or may not be increased

•

en:atrial abnormalities on electrocardiogram

•

en:anomalies of cholesterol levels

•

en:androgens increased

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

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

•

en:absent 7-dehydrocholesterol

•

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

•

en:abnormal liver function tests (in some patients)

•

en:abnormal karyotype in 3 patients involving distal 6p

•

en:hyperthermia

•

en:alcohol blood elevated

•

en:molybdenum cofactor deficiency

•

en:abnormality of superoxide metabolism

•

en:abnormality of circulating protein level

•

en:hypervolemia

•

en:heat stroke

•

en:thrombocytosis

•

en:named sign of abdomen

•

en:lymphocytosis

•

en:increased androgen level

•

en:cerebrospinal fluid: protein - increased +

•

en:vitamin d deficiency

•

en:variegated translocation mosaicism in cultured fibroblasts

•

en:urine osmolarity decreased

•

en:unresponsive to acth stimulation

•

en:transient eosinophilia in first decade

•

en:tenascin x deficiency (serum and fibroblasts)

•

en:serum transaminase increased

•

en:serum bicarbonate increased

•

en:serum ammonia increased

•

en:secondary decrease of plasma free carnitine

•

en:reduced total and free carnitine in plasma and tissue

•

en:prolidase deficiency

•

en:presence of vacuoles on muscle biopsy

•

en:polyploid sperm heads

•

en:platelet count normal

•

en:plasmalogen deficiency

•

en:phytanic acid increased

•

en:phosphate normal

•

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

•

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

•

en:partial deficiency of factor xi (less common)

•

en:normocalcemia

•

en:normal to mildly increased serum creatine kinase

•

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

•

en:normal plasma and tissue carnitine

•

en:normal igm levels

•

en:normal extrarenal responses to ddavp administration

•

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

•

en:normal complex ii activity

•

en:normal ciliary structure and function

•

en:neutropenia (in 1 patient)

•

en:myoglobinuria (reported in 1 patient)

•

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

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

en:monoclonal gammopathy

•

en:mild eosinophilia may occur

•

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

•

en:metabolic acidosis

•

en:low total serum protein

•

en:low serum cortisol

•

en:low serum alkaline phosphatase in heterozygotes

•

en:low procollagen 1 c-peptide (in some patients)

•

en:low or absent prolactin (pl)

•

en:low absolute lymphocyte count

•

en:loss of ciliary beat coordination

•

en:intermittent dicarbonic aciduria

◀

Génériques

[F] [H]

›

en:laboratory or test result

•

en:elevated

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6845841 • caches: c1=12 c2=1006 c3=1

+/-

♥

po

la

ti

le

as

ku

co

lo

to

ta

ta

xe

po

li

?!

!?

[Vider le cache]