biotinidase deficiency

biotinidase deficiency
bi·o·tin·i·dase de·fi·cien·cy (bi″o-tinґĭ-dās) a biotin-responsive, autosomal recessive aminoacidopathy caused by mutations in the BTD gene (locus: 21q22.1), which encodes biotinidase, leading to deficiency of activity of the biotin-containing carboxylases. Features include ketoacidosis, alopecia, skin rash, hypotonia, developmental delay, ataxia, conjunctivitis, visual abnormalities, hearing loss, hepatosplenomegaly, and coma. There may be mild hyperammonemia, and the urine contains organic acids characteristic of each individual carboxylase deficiency. Called also juvenile or late-onset multiple carboxylase deficiency.

Medical dictionary. 2011.

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  • Biotinidase deficiency — Infobox Disease Name = PAGENAME Caption = Biotin DiseasesDB = 29822 ICD10 = ICD9 = ICD9|277.6 ICDO = OMIM = 253260 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 239 MeshID = D028921 Biotinidase deficiency is an autosomal recessive metabolic… …   Wikipedia

  • Biotinidase — Masse/Länge Primärstruktur 523 AA (Mensch) …   Deutsch Wikipedia

  • Biotinidase — BTD redirects here. If you were looking for Barney the Dinosaur, see here protein Name=biotinidase caption= width= HGNCid=1122 Symbol=BTD AltSymbols= EntrezGene=686 OMIM=609019 RefSeq=NM 000060 UniProt=P43251 PDB= ECnumber=3.5.1.12 Chromosome=3… …   Wikipedia

  • biotinidase — An enzyme catalyzing the hydrolysis of biotin amide (forming biotin and ammonia), biocytin (forming biotin and lysine), and other biotinides. A deficiency of b. can lead to organic acidemia …   Medical dictionary

  • deficiency — An insufficient quantity of some substance (as in dietary d. or hemoglobin d. in marrow aplasia); organization (as in mental d.); activity (as in enzyme d. or reduced oxygen carrying capacity of the blood), etc., of which the amount present is of …   Medical dictionary

  • Multiple carboxylase deficiency — Classification and external resources MeSH D009100 Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes. The deficiency can be in biotinidase or holocarboxylase synth …   Wikipedia

  • Carnitine palmitoyltransferase II deficiency — Classification and external resources Carnitine ICD 9 …   Wikipedia

  • 3-Methylcrotonyl-CoA carboxylase deficiency — Classification and external resources Methylcrotonyl CoA OMIM 210200 …   Wikipedia

  • Medium-chain acyl-coenzyme A dehydrogenase deficiency — (MCAD) Classification and external resources ICD 9 277.85 OMIM 201450 …   Wikipedia

  • Mitochondrial trifunctional protein deficiency — Classification and external resources OMIM 609015 DiseasesDB 34111 eMedi …   Wikipedia

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