Diko : en:elevated serum alkaline phosphatase during hyperplastic callus formation

en:elevated serum alkaline phosphatase during hyperplastic callus formation

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C2674455

Associations d'idées

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1000

en:increased vitamin e (alpha-tocopherol) levels

•

en:increased serum levels of free plasma thyroid hormones

•

en:increased urinary 2-methylbutyrylglycine

•

en:biotinidase deficiency

•

en:chronic hypercapnia

•

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

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased levels of certain coagulation factors

•

en:decreased or absent gch1 activity

•

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

•

en:glycinuria

•

en:disorganized growth plate cartilage

•

en:indirect bilirubin increased

•

en:folic acid deficiency

•

en:increased serum thyrotropin

•

en:no metabolic abnormalities

•

en:homocysteinemia (in some patients)

•

en:glutathione deficiency

•

en:increased csf threonine

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:decreased whole blood serotonin

•

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

•

en:androgens increased

•

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

•

en:absent axonal flare response after intradermal histamine injection

•

en:decreased or normal serum factor b

•

en:decreased uros activity (1 patient)

•

en:elevated plasma campesterol

•

en:hypoalbuminemia (in 83%)

•

en:increased csf histidine

•

en:increased serum lactate

•

en:long-chain dicarboxylic aciduria

•

en:myoglobinuria

•

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

•

en:normal serum liver enzymes

•

en:complex organic aciduria

•

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

•

en:increased plasma phospholipids

•

en:increased serum lactate (mild)

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased urinary o-linked sialopeptides

•

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

•

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

•

en:elevated 3-methylcitric acid

•

en:increased serum creatine kinase, mild

•

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

•

en:hypoglycorrhachia (low glucose in csf)

•

en:exercise-induced myoglobinuria in adults

•

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

•

en:abnormal liver function tests (less common)

•

en:decreased sulfite oxidase activity in fibroblasts

•

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

•

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

•

en:abnormal serum liver enzyme levels

•

en:abnormal fecal fat

•

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

•

en:isochromosome 12p (i(12p))

•

en:urine cortisol, increased

•

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

•

en:increased urinary hga

•

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

•

en:normal serum transferrin profiles

•

en:microduplication of chromosome 5p13

•

en:low cholesterol esterification rates

•

en:increased urinary isobutyryl glycine

•

en:large spermatozoa

•

en:increased serum lactate in acute stage

•

en:increased plasma proinsulin

•

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

•

en:green urine

•

en:fumarase deficiency

•

en:decreased csf glycine

•

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

•

en:mildly elevated hepatic enzymes

•

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

•

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

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:glutaric aciduria

•

en:elevated alkaline phosphatase

•

en:abnormal n-glycosylation of transferrin

•

en:decreased or absent steroid sulfatase activity

•

en:decreased or absent histidase activity

•

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

•

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

•

en:decreased adiponectin

•

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

•

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

•

en:normal to elevated total plasma carnitine

•

en:increased plasma branched-chain fatty acids

•

en:decreased or absent glycogen branching enzyme activity

•

en:mild elevation of triglycerides

•

en:elevated serum levels of 2-prime deoxyadenosine

•

en:telomere shortening

•

en:positive antinuclear antibody test

•

en:pancreatic trypsinogen deficiency

•

en:orotic acid crystalluria

•

en:mild hyperammonemia

•

en:thrombocytosis (in some patients)

•

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

•

en:increased serum iduronate sulfatase

•

en:increased rai (radioactive iodine) uptake

•

en:tryptophanuria

•

en:increased circulating renin level

•

en:karyomegaly may be found in other visceral organs

•

en:hypoalphalipoproteinemia

•

en:elevated urine ceramide levels

•

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

•

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

•

en:no ketosis

•

en:increased phytanic acid in body tissues and fluids

•

en:increased csf lactate during acute episodes

•

en:deficient fibroblast aicar-tf activity

•

en:elevated alkaline phosphatase (in one patient)

•

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

•

en:defect in mitochondrial and peroxisomal fission

•

en:defective bile acid metabolism

•

en:decreased plasma serine

•

en:aberrant gamma-interferon-mediated inflammation

•

en:chronic hypoxemia

•

en:borderline elevated low-density lipoprotein

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:increased serum and urinary 2-oxoglutarate

•

en:decreased levels of cpt2 protein

•

en:transient neonatal hypocalcemia (2p21del)

•

en:normal serum phytanic and pristanic acid

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:low apolipoprotein

•

en:increased urinary 2-oxoglutaric acid

•

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

•

en:increased levels of carcinoembryonic antigen

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

en:elevated urinary 3-methylglutarate

•

en:elevated sweat chloride (some)

•

en:electrolyte disturbances from intractable diarrhea

•

en:defective (ca2+) mobilization in t cells

•

en:impaired o-glycosylation

•

en:decreased testosterone level

•

en:increased urinary 2-alpha-ketoglutaric acid

•

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

•

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

•

en:increased urinary sialylglycopeptides

•

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

•

en:increased csf immunoglobulin levels

•

en:high urinary copper

•

en:decreased c3 activity

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:serum albumin low result

•

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

•

en:elevated total bilirubin

•

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

•

en:low or undetectable c-peptide

•

en:decreased plasma glycine

•

en:normal csf neurotransmitters

•

en:lysine-ketoglutarate reductase deficiency

•

en:serum phosphate concentration below normal

•

en:increased urinary 3-methylglutaconic acid

•

en:increased serum beta-hexosaminidase

•

en:incomplete n-glycosylation of cellular proteins

•

en:elevated il1-beta

•

en:dilated rough endoplasmic reticulum (rer)

•

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

•

en:abnormal cardiolipin subspecies composition

•

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

•

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

•

en:hypertriglyceridemia (rare)

•

en:hypokalemia during attacks

•

en:increased serum osteocalcin

•

en:increased urinary hypoxanthine

•

en:low plasma citrulline

•

en:serum creatinine raised

•

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

•

en:increased cellular sensitivity to uv light

•

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

•

en:iodide organification defect

•

en:low or low-normal serum t4

•

en:nephrotic syndrome

•

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

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

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

•

en:hyperbilirubinemia

•

en:propionic acidemia

•

en:low urinary cyclic amp response to pth administration

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:hyperlipoproteinemia type iib

•

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

•

en:hyperammonemia after protein intake

•

en:elevated plasma acth

•

en:cerebrospinal fluid oligoclonal bands

•

en:albuminuria

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:very long chain fatty acid accumulation

•

en:serum corticosterone increased

•

en:anti-factor viii positive

•

en:increased urinary s-sulfocysteine

•

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

•

en:serum creatine kinase may be normal

•

en:aspartylglycosaminuria

•

en:normal concentration of parathyroid hormone

•

en:mildly increased serum lactate

•

en:low ldl cholesterol

•

en:no mucopolysacchariduria

•

en:hypofibrinogenemia

•

en:coagulopathy (inr = 2.2 - 3.5)

•

en:fasting chylomicronemia

•

en:decreased or absent peroxisome acyl-coa oxidase activity and protein

•

en:decreased agt activity

•

en:high sweat sodium and chloride

•

en:increased urinary tiglylglycine

•

en:increased urinary dopamine

•

en:increased urinary homovanillic acid (hva)

•

en:increased urinary oligosaccharides

•

en:increased urinary phospholipids

•

en:ketoses, metabolic

•

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

•

en:iodine depletion

•

en:lactic acidemia (2p21del)

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

en:low-to-normal csf lactate

•

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

•

en:low or normal serum calcium

•

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

•

en:2-aminoadipic aciduria

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased serum uric acid

•

en:increased serum transferrin

•

en:increased serum lysine (group b)

•

en:increased serum ferritin

•

en:increased serum creatine kinase in patients with muscle involvement

•

en:increased serum creatine kinase during episodes

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

en:increased plasma long-chain acylcarnitines

•

en:increased plasma homogentisic acid (hga)

•

en:increased n-acetyl-l-aspartic acid (naa) in urine, csf, and blood

•

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

•

en:increased di- and asialo-transferrin

•

en:increased csf interferon alpha

•

en:low serum ceruloplasmin

•

en:low or undetectable insulin

•

en:proteinuria (type ii, congenital)

•

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

•

en:platelet aggregation decreased

•

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

•

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

•

en:uremia

•

en:unresponsive to acth stimulation

•

en:thyroid hormones increased

•

en:thrombocytopenia

•

en:submucosal macrophages filled with sphingolipids

•

en:structural abnormalities seen on chromosome analysis

•

en:serum osmolality decreased

•

en:serum creatine kinase may be increased

•

en:reduced platelet glycoprotein ib complex

•

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

•

en:increased ck-mb

•

en:poor mitogenic response to growth factors

•

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

•

en:methylsuccinic aciduria

•

en:osteocalcin increased

•

en:oestradiol decreased

•

en:no hematuria

•

en:normal total urinary coproporphyrin

•

en:normal serum erythropoietin (epo, 133170)

•

en:normal serum complement levels

•

en:normal serum cobalamin

•

en:normal or decreased serum potassium

•

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

•

en:myoglobinuria (reported in 1 patient)

•

en:multi-tailed spermatozoa

•

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

•

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

•

en:microtubule disorganization in some cilia

•

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

•

en:fibroblasts show decreased mitochondrial complex v activity

•

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

•

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

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:decreased serum igm

•

en:decreased serum cobalamin

•

en:decreased plasminogen antigen

•

en:decreased plasma lpl levels (in some patients)

•

en:decreased or absent serum ceruloplasmin

•

en:decreased nk cells (in some patients)

•

en:decreased metabolism of thiopurine drugs

•

en:decreased leptin

•

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

•

en:decreased copper, iron, zinc

•

en:decreased activity of thymidine phosphorylase

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

en:cystathioninuria (lab finding)

•

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

•

en:chromosome 11q23.3 deletion

•

en:calcium normal

•

en:ballooned neurons

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:antiribonuclear protein positive

•

en:aminoaciduria (in some patients)

•

en:aminoaciduria, mild (in some patients)

•

en:adenylosuccinase deficiency (finding)

•

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

•

en:absent or abnormal thyroglobulin

•

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

•

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

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:4-hydroxyphenyllactic aciduria

•

en:defect in dna repair

•

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

•

en:increased 18-oxocortisol

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

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

•

en:hypocitraturia

•

en:hypocalciuria or normocalciuria

•

en:hyperthreoninuria

•

en:hyperprostaglandinuria

•

en:hyperkalemia during attacks

•

en:hyperglycinuria (disorder)

•

en:hypercalciuria

•

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

•

en:hydroxyprolinuria

•

en:holocarboxylase synthetase deficiency

•

en:high serum osmolality

•

en:high plasma citrulline (100-300 micromolar)

•

en:glycogen storage disease type vi

•

en:fragmentation of the mitochondrial network

•

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

•

en:folate-dependent fragile site at xq28

•

en:farber lipogranulomatosis

•

en:eosinophilia, mild

•

en:elevated prothrombin time

•

en:elevated leukotriene e(4)

•

en:elevated hepatic transaminases

•

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

•

en:elevated dihydrobiopterin in csf

•

en:elevated csf/plasma glycine ratio

•

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

•

en:elevated 8(9)-cholestenol

•

en:elevated 2-ketoglutarate (urine)

•

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

•

en:dermatan sulfate excretion in urine

•

en:vitamin b12 deficiency (in some patients)

•

en:elevated gamma-glutamyltransferase (ggt)

•

en:abnormal karyotype in 3 patients involving distal 6p

•

en:increased urinary glycerol

•

en:marked hypobetalipoproteinemia

•

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

•

en:low density lipoprotein increased

•

en:low-to-normal platelet count

•

en:low-molecular-weight proteinuria

•

en:long-chain ketonuria

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:leukocytosis

•

en:lack of ciliary motility

•

en:isovaleric acidemia

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:increased urinary propionyl glycine

•

en:increased urinary l-glycerate

•

en:increased urinary dicarboxylic acid, transient

•

en:medium chain dicarboxylic aciduria

•

en:increased urinary creatine

•

en:increased total bilirubin may occur

•

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

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased serum glycerol

•

en:increased serum gamma-ggt (231950)

•

en:increased serum erythropoietin (epo, 133170)

•

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

•

en:increased serum acylcarnitine during febrile crisis

•

en:increased serum, urinary, and csf lysine

•

en:increased prevalence among the native american lumbee indians

•

en:increased plasma vldl, ldl

•

en:increased plasma lactate

•

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

•

en:median mean platelet volume (mpv) 18fl

•

en:mildly elevated creatine phosphokinase

•

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

•

en:raised c-reactive protein

•

en:very low leptin level

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

en:t cells may be increased or decreased

•

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

•

en:abnormal nasal potential difference

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:shortened telomeres (in 1 of 2 patients)

•

en:shortened telomeres (1 patient)

•

en:severely decreased palmitate oxidation

•

en:serum creatine kinase 20-70 times normal

•

en:serum copper decreased

•

en:round, yellow-brown dha urine crystals

•

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

•

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

•

en:phosphaturia may disappear after a long period of time

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:phosphaturia

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

en:patient cells show abnormal mitochondrial morphology

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

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

•

en:occasional hypomagnesemia

•

en:no lactic acidosis

•

en:no evidence of perinatal infection

•

en:normal urinary pterins

•

en:normal serum cobalamin (vitamin b12)

•

en:normal free urinary cortisol

•

en:normal cerebrospinal fluid

•

en:neutropenia

•

en:neonatal hyperbilirubinemia

•

en:increased csf interferon

•

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

•

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

•

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

•

en:decreased tetrasialo-transferrin

•

en:decreased serum free thyroxine

•

en:decreased plasminogen activity

•

en:decreased plasma total and free carnitine

•

en:decreased plasma esterified cholesterol

•

en:decreased plasmalogens

•

en:decreased methylmalonyl-coa mutase activity

•

en:decreased factor xi

•

en:decreased cytochrome c oxidase activity in skin fibroblasts, liver, and skeletal muscle

•

en:decreased csf serine

•

en:decreased csf hypocretin

•

en:decreased circulating renin level

•

en:decreased beta-thromboglobulin

•

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

•

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

•

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

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

en:cutaneous anergy

•

en:cellular arrest at g2 of the cell cycle

•

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

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

en:aminoaciduria (less common)

•

en:aldosterone level increased above normal

•

en:adrenocorticotropic hormone, increased

•

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

•

en:absent dystrophin on muscle biopsy

•

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

•

en:abnormal transaminases (1 patient)

•

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

•

en:increased cholesterol

•

en:defective glcnac-pi synthesis

•

en:abnormal urinary organic acids

•

en:defect in double-stranded dna repair

•

en:glucose-6-phosphate deficiency

•

en:immunoreactive pc protein

•

en:deficiency of fructokinase

•

en:increased blood alanine

•

en:hypoxia

•

en:hypoproteinemia (in 1 patient)

•

en:hyponatremia

•

en:hypoglycemia, intermittent

•

en:hyperprolinemia type 1

•

en:hyperoxaluria

•

en:hyperornithinemia

•

en:hypernatremia

•

en:high sister chromatid exchange (sce) rate

•

en:heparin cofactor ii deficiency (disorder)

•

en:glycogen storage disease type v

•

en:iiga and igg antigliadin antibodies (aga)

•

en:generalized aminoaciduria

•

en:elevated erythrocyte adenosine deaminase

•

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

•

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

•

en:elevated afp (endodermal sinus tumor)

•

en:elevated bilirubin (bilirubinemia)

•

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

•

en:dhea sulfotransferase below limit of detection

•

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

•

en:elevated plasma and urine succinylacetone

•

en:elevated plasma propionylcarnitine

•

en:elevated serum transaminase levels

•

en:fasting hypoglycemia (early in disease course)

•

en:elevated hcg (choriocarcinoma)

•

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

•

en:increased serum lactate (patient a)

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:increased serum total cholesterol

•

en:increased urinary lactate

•

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

•

en:increased urinary, plasma, and csf dihydrouracil

•

en:increased urinary acetoacetic acid

•

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

•

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

•

en:increased urinary glycosphingolipids, particularly globotriaosylceramide

•

en:increased urinary 3-oh-propionic acid

•

en:increased plasma pristanic acid

•

en:increased serum alanine (1 patient)

•

en:increased serum acyl carnitines

•

en:increased serum acylcarnitines

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:increased pyruvate in serum and csf

•

en:increased pristanic acid

•

en:increased plasma phytanic acid

•

en:increased plasma free cholesterol

•

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

•

en:increased nasal-potential difference (some)

•

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

•

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

•

en:increased bile acid intermediates (dhca and thca)

•

en:impairment of urinary concentration

•

en:hypoxemia

•

en:increased urinary sulfatides

•

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

•

en:increased urinary sulfite

•

en:myoglobinuria after exertion (in some patients)

•

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

•

en:hyperuricuria

•

en:no cartilage staining with toluidine blue

•

en:normocalcemia

•

en:normal urinary orotic acid

•

en:normal serum bile acids

•

en:normal plasma renin

•

en:normal iga levels

•

en:normal extrarenal responses to ddavp administration

•

en:normal erythrocyte gs activity

•

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

•

en:normal 46,xy karyotype

•

en:nadh-cytochrome b(5) reductase deficiency

•

en:monoclonal gammopathy

•

en:increased urine porphyrins at times

•

en:mitochondrial malonyl-coa decarboxylase activity in fibroblasts is very low (as low as 4%)

•

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

•

en:mildly elevated transaminases

•

en:methionine adenosyltransferase deficiency

•

en:marked elevation of erythrocyte sedimentation rate

•

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

•

en:lysyl pyridinoline/hydroxylysyl pyridinoline (lp/hp) ratio approximately 1

•

en:low or normal serum igm

•

en:liver phosphorylase kinase (phk) deficiency

•

en:ketonuria, acute

•

en:iron low

•

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

•

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

•

en:hypocalcemia (male)

•

en:decreased serum haptoglobin (in some patients)

•

en:hyperuricemia

•

en:cells show increased sensitivity to ionizing radiation

•

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

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:decreased csf arginine

•

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

•

en:decreased activities of multiple sulfatases

•

en:decreased acid sphingomyelinase activity

•

en:d-2-hydroxyglutaric aciduria

•

en:chylomicronemia, refractory fasting

•

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

•

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

•

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

•

en:cell studies show increased dna breakage

•

en:cd4+/cd8+ ratio is reversed

•

en:decreased serum b12 levels

•

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

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

en:anti-iga antibodies commonly present

•

en:aminoaciduria

•

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

•

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

•

en:abnormal transferrin isoelectric focusing (ief)

•

en:abnormal liver function test

•

en:abnormal liver enzymes during illness

•

en:abnormal liver enzymes, episodic

•

en:abnormal igfr1 function

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:platelet function test normal

•

en:decreased palmitate oxidation

•

en:decreased serum rt3

•

en:hyperphosphatemia, transient

•

en:elevated sweat chloride

•

en:hypermethioninemia, progressive

•

en:hyperlipidemia

•

en:hyperchloremia (mean 111 mm)

•

en:high sweat electrolyte

•

en:heparan sulfate excretion in urine

•

en:hemophilia b

•

en:hemizygous deletion at 4p16.3

•

en:hawkinsinuria

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:glucosuria, mild, intermittent

•

en:glomerular filtration rate decreased

•

en:fasting ketosis

•

en:elevated urinary phosphoethanolamine

•

en:elevated serum transferrin saturation

•

en:decreased urinary excretion of uromodulin

•

en:elevated serum parathyroid hormone (pth) level

•

en:elevated serum levels of adenosine

•

en:elevated serum bile acids

•

en:elevated plasma phytanic acid

•

en:elevated plasma galactose (galactosemia)

•

en:elevated liver transaminases

•

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

•

en:elevated biopterin in csf

•

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

•

en:defects in mitochondrial oxidative phosphorylation

•

en:defective dna repair after ultraviolet radiation damage

•

en:decreased xanthine dehydrogenase activity

•

en:decreased urinary sulfate

•

en:plasma triglycerides increased

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:increased urinary excretion of l-xylulose

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:low to low-normal magnesium

•

en:low serum uric acid

•

en:low serum acth

•

en:low or absent luteinizing hormone (lh)

•

en:low or absent iga levels

•

en:low or absent follicle stimulating hormone (fsh)

•

en:ketoacidosis

•

en:increased urinary urate

•

en:increased urinary taurine

•

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

•

en:increased urinary organic acids (in some patients)

•

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

•

en:multiple autoantibodies

•

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

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:increased uric acid with exercise

•

en:increased susceptibility to ebv infection

•

en:increased sodium-potassium pump activity

•

en:increased prv-1 (162860) mrna

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:increased peripheral blood monocytes

•

en:increased intracellular fmrp mrna

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

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

•

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

•

en:mildly elevated acth

•

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

•

en:increased csf lactate

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:presence of serum anti-lu3 antibodies

•

en:very low density lipoprotein increased

•

en:transferrin saturation increased

•

en:serum thyroxine may be decreased or normal

•

en:serum prolactin increased

•

en:serum pristanic acid increased

•

en:serum folate low

•

en:serum ferritin hyperglycosylation

•

en:serum cholesterol low or normal

•

en:serum calcium elevated

•

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

•

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

•

en:reduced iga

•

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

•

en:n-glycosylation defect

•

en:prothrombin time increased

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:pms show deficient oxidation of debrisoquine

•

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

•

en:patient cells show increased chromosome breakage

•

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

•

en:parathyroid hormone normal

•

en:paraproteinemia

•

en:normal serum parathyroid hormone (pth)

•

en:normal pyridinoline excretion in urine

•

en:normal plasma total homocysteine

•

en:normal exocrine pancreatic function

•

en:normal-elevated plasma testosterone (male range)

•

en:increased erythrocyte sedimentation rate, episodic

•

en:reduced igg levels, particularly igg2 subclass

•

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

•

en:anomalies of cholesterol levels

•

en:decreased numbers of t regulatory cells

•

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

•

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

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:decreased levels of plasma factor viii

•

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

•

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

•

en:decreased beta-glucocerebrosidase protein and activity

•

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

•

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

•

en:argininosuccinic aciduria

•

en:antithrombin iii decreased

•

en:antineutrophil antibody positivity

•

en:absent pro alpha 2(i) chain synthesis (fibroblasts)

•

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

•

en:abnormal liver enzymes, intermittent

•

en:abnormal eeg in 25% hospitalized patients

•

en:5-alpha-reductase-2 enzyme deficiency

•

en:variable hypoglycemia

•

en:tyrosine loss

•

en:thymic hormone decreased

•

en:subtelomeric deletion of chromosome 16p

•

en:skewed x-inactivation in females

•

en:serum cholesterol normal

•

en:serum alkaline phosphatase normal or mildly increased

•

en:reduced ferrochelatase activity

•

en:increased creatine kinase (ck)

•

en:reduced erythrocyte gs activity

•

en:decreased or absent apolipoprotein a-i

•

en:translocation between 18q21 and 14q32

•

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

•

en:glucosidase i deficiency in liver and fibroblasts

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

en:decreased serum leptin

•

en:igg deficiency

•

en:hypouricemia

•

en:hypogammaglobulinemia, profound

•

en:hyperkalemia

•

en:hypercholesterolemia (reported in 2 patients)

•

en:hyperammonemia, episodic

•

en:hemoglobin f increased

•

en:granular osmiophilic deposits (grod) in cells

•

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

•

en:glycoamino aciduria

•

en:hypocalciuria

•

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

•

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

•

en:decreased sulfite oxidase activity

•

en:defective dna repair

•

en:eosinophilia

•

en:deficiency of serum properdin p factor

•

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

•

en:direct hyperbilirubinemia

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:elevated free carnitine

•

en:elevated mchc

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:elevated serum alpha-fetoprotein

•

en:elevated serum uric acid concentrations

•

en:elevated serum parathyroid hormone (pth)

•

en:lower total cholesterol

•

en:myopathy with type i fiber atrophy on muscle biopsy

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy (50%) affecting all chromosomes

•

en:mitochondria dna deletion

•

en:mitochondrial deletions

•

en:mildly decreased serum creatinine

•

en:methylenetetrahydrofolate reductase deficiency

•

en:low serum magnesium

•

en:low or absent prolactin (pl)

•

en:low cd4+ count

•

en:lipopigment in extraneuronal cells

•

en:low-normal igm

•

en:increased plasma renin activity

•

en:increased serum arylsulfatase a.

•

en:lack of excessive parenchymal iron storage

•

en:intracellular accumulation of unesterified cholesterol

•

en:increased very-long chain fatty acids

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

en:increased serum s-adenosylmethionine

•

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

•

en:increased serum methionine

•

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

•

en:increased urinary ketones

•

en:prothrombin time low

•

en:negative nitroblue tetrazolium (nbt) reduction test

•

en:reduced erythrocyte adenosine deaminase activity

•

en:tenascin x deficiency (serum and fibroblasts)

•

en:increased iga level

•

en:t-lymphocytopenia

•

en:some cilia show central complex and radial spoke defects

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:serum transaminase increased

•

en:serum iron low (finding)

•

en:serum growth hormone increased

•

en:serum creatine kinase may be normal or elevated

•

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

•

en:prolonged bleeding time

•

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

•

en:presence of cytochrome b(-245)

•

en:premature chromosome condensation

•

en:platelet count normal

•

en:plasmalogen deficiency

•

en:partial deficiency of factor xiii(c)

•

en:p5c levels increased in urine

•

en:orotic aciduria

•

en:oligospermia or azoospermia

•

en:normal to slightly high alkaline phosphatase

•

en:normal to increased plasma threonine

•

en:increased long-chain acylcarnitine

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:increased fas ligand

•

en:citrullinemia

•

en:decreased transferrin increased serum iron

•

en:decreased plasma free carnitine

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

en:decreased ldl cholesterol

•

en:decreased hepatic gaba transaminase activity

•

en:decreased fibroblast iduronate sulfatase

•

en:decreased circulating cortisol level

•

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:chromosome instability (hypo-/hyperdiploidy, chromosomal breaks, premature centromere division)

•

en:elevated ammonia

•

en:bilirubin conjugated increased

•

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

•

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

•

en:alkaline phosphatase decreased

•

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

•

en:accumulation of guanidinoacetate in brain

•

en:abnormal serum glycoproteins

•

en:3-methylglutaric aciduria (3-mga)

•

en:2-oxoadipic aciduria

•

en:two alternative chimeric oncogene products called p210(bcr-abl) and p185(bcr-abl)

•

en:defect in oxidative phosphorylation

•

en:elevated fibroblast free sialic acid

•

en:increased erythropoietin

•

en:green serum

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:increased csf taurine

•

en:increased chromosomal breakage

•

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

•

en:inappropriately normal or increased plasma hepcidin

•

en:hypocalcemia, transient

•

en:hypercholesterolemia (in 75%)

•

en:hypercholesterolemia

•

en:hyperammonemia

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:glycogen accumulation in both liver and muscle

•

en:elevated il6

•

en:foam cells in bone marrow and renal glomeruli

•

en:fluorescence of red blood cells by uv microscopy

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:factor viii deficiency

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:elevated urinary 3-methylglutaconate

•

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

•

en:elevated serum phosphorus

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

en:elevated plasma alloisoleucine

•

en:transient neonatal hypoglycemia (2p21del)

•

en:decreased or normal serum factor i

•

en:urinary excretion of mucopolysaccharides

•

en:increased serum lactate, particularly after exercise

•

en:monomeric igm

•

en:mitochondrial complex i deficiency in muscle

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:ketonuria

•

en:keratan sulfate excretion in urine that decreases with age

•

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

•

en:intermittent 3-methylglutaconic aciduria

•

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

•

en:increased serum s-adenosylhomocysteine

•

en:increased serum methionine (reported in 2 cases)

•

en:increased serum ige

•

en:neutrophilia, both basal and during infections

•

en:increased serum butyryl carnitine

•

en:increased serum bile acids

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:increased lysine in serum and csf

•

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

•

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

•

en:increased bone serum acid phosphatase

•

en:inclusions contain phospholipids, phosphatidylcholine, sphingolipids, gangliosides, mucopolysaccharides

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

en:hyposialylation of o-linked serum glycans

•

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

•

en:normal csf 5-hiaa

•

en:hypomagnesemia

•

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

•

en:osteogenesis imperfecta, type 5

•

en:vitamin b12 deficiency (uncommon)

•

en:very low igg

•

en:variable respiratory chain enzyme deficiency

•

en:thyroid dyshormonogenesis 5

•

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

•

en:severely decreased antigen levels of vwf and factor viii

•

en:serum testosterone level normal

•

en:serum iron normal

•

en:schirmer test shows alacrima

•

en:renin decreased

•

en:no chromosomal breakage

•

en:reduced beating amplitudes in cilia

•

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

•

en:pt normal

•

en:protein total decreased

•

en:variable defects of inner dynein arms

•

en:proteinuria

•

en:plasma ammonia not elevated

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

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

•

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

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:proteinuria in those with cystic kidneys

•

en:hypercholesterolemia, 350-550 mg/l in heterozygotes, 650-1000 mg/l in homozygotes

•

en:cd4+/cd8+ ratio often reversed

•

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

•

en:decreased apoa-i and apoa-ii

•

en:decreased adenosylcobalamin

•

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

•

en:decreased activity of ampd1 in skeletal muscle increased serum creatine kinase

•

en:decreased activity of 2-oxoacid dehydrogenases

•

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

•

en:csf pleocytosis, particularly of lymphocytes

•

en:creatine phosphokinase increased

•

en:chondroitin 6-sulfate excretion in urine

•

en:aminoaciduria, intermittent

•

en:decreased erythrocyte plasmalogen

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

en:abnormal phospholipid profile

•

en:abnormal myelination in sural nerve biopsies

•

en:abnormal columnization of chondrocytes

•

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

•

en:4-hydroxyphenylpyruvic aciduria

•

en:3-methylglutaric aciduria

•

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

•

en:widespread interstitial fibrosis (visceral organs)

•

en:hypercalcemia

•

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

•

en:absent igg2 subclass

•

en:decreased glycerol kinase activity

•

en:elevated ferritin l subunit

•

en:hydrocortisone decreased

•

en:decreased iga, igg, igm

•

en:high serum inosine levels

•

en:high ebv viral load

•

en:hepatic lipase deficiency (disorder)

•

en:hematuria, gross and microscopic

•

en:elevated urine unsulfated chondroitin sulfate

•

en:elevated urinary hyaluronic acid levels

•

en:elevated total iron-binding capacity

•

en:elevated serum protein

•

en:galactosylation defects

•

en:elevated circulating parathyroid hormone (pth) level

•

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

•

en:decreased telomerase activity

•

en:decreased platelet derived growth factor

•

en:elevated cerebrospinal fluid (csf) protein

•

en:decreased thrombospondin

•

en:defect in retrograde intraflagellar transport in cilia

•

en:deficient efflux of intracellular cholesterol

•

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

•

en:elevated 8-dehydrocholesterol

•

en:elevated androstenedione

•

en:elevated blood spot hydroxybutyryl carnitine

•

en:increased serum creatine kinase (patient a)

•

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

•

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

•

en:increased tissue levels of triglycerides

•

en:increased serum and csf glycine

•

en:increased transferrin saturation (>60%)

•

en:intermittent ethylmalonic aciduria

•

en:increased urinary 2-ketoglutarate (variable)

•

en:increased urinary adenosine

•

en:increased urinary excretion of camp

•

en:increased urinary tricarboxylic acid intermediates

•

en:intermittent severe hypoglycemia (in some patients)

•

en:increased il1b increased soluble il2r

•

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

•

en:increased serum ammonia (group b)

•

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

•

en:increased ferritin

•

en:hyperlactemia

•

en:liver function tests normal

•

en:heteroplasmic partial duplication of mtdna

•

en:high m-component

•

en:high nonceruloplasmin-bound serum copper

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:hypercalciuria (in childhood)

•

en:hyperlysinemia

•

en:increased csf homovanillic acid (hva)

•

en:hyperthreoninemia

•

en:hypoglycemia

•

en:hypokalemia

•

en:impaired creatine uptake in fibroblasts

•

en:impaired mitochondrial translation

•

en:increased 11-deoxycortisol

•

en:lactate high

•

en:serum c-reactive protein may be increased

•

en:low plasma methionine

•

en:severe amyloid angiopathy

•

en:no dicarboxylic aciduria

•

en:pink urine

•

en:plasma protein c deficiency

•

en:saposin a deficiency (finding)

•

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

•

en:serum carnitine deficiency

•

en:spongy degeneration of brain on histology

•

en:normal transferrin isoelectric profile

•

en:thyroid dyshormonogenesis 3

•

en:transient hyperlipidemia

•

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

•

en:tyrosinemia

•

en:urine uric acid decreased

•

en:vacuolated lymphocytes

•

en:normal urinary cyclic amp response to pth administration

•

en:normal serum creatine kinase

•

en:low serum calcium

•

en:normal lactate (hcs)

•

en:low urinary excretion of neutral 17-ketosteroids

•

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

•

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

•

en:mildly elevated hdl in heterozygotes

•

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

•

en:normal collagen type i studies

•

en:normal lysl hydroxylase activity

•

en:normal serum biotin concentration

•

en:normal lysyl hydroxylase activity

•

en:normal male karyotype (46,xy)

•

en:normal or mildly reduced sphingomyelinase activity

•

en:normal phytanic acid

•

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

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:fucosidosis

◀

Génériques

[F] [H]

›

en:elevated

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846893 • caches: c1=74 c2=2602 c3=708

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