multiple carboxylase deficiency

multiple carboxylase deficiency
either of two autosomal recessive aminoacidopathies caused by mutations that lead to deficient activity of biotin-containing carboxylases. The early-onset (or neonatal or infantile) form results from holocarboxylase synthetase deficiency (q.v.); the late-onset (or juvenile) form results from biotinidase deficiency (q.v.)

Medical dictionary. 2011.

Игры ⚽ Нужна курсовая?

Look at other dictionaries:

  • 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

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

  • methylcrotonoyl-CoA carboxylase — meth·yl·cro·ton·o·yl CoA car·box·y·lase (meth″əl kro tonґo əl ko aґ kahr bokґsə lās) [EC 6.4.1.4] a biotin containing enzyme of the ligase class that catalyzes the ATP driven carboxylation of 1. 3 methylcrotonyl CoA to… …   Medical dictionary

  • 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… …   Medical dictionary

  • holocarboxylase synthetase deficiency — holo·car·boxy·lase syn·the·tase de·fi·cien·cy (hōl″o kahr bokґsə lās sinґthə tās) a biotin responsive, autosomal recessive aminoacidopathy caused by mutations in the HLCS gene (locus: 21q22.1), which encodes… …   Medical dictionary

  • propionyl-CoA carboxylase — pro·pi·o·nyl CoA car·boxy·lase (proґpe ə nəl ko aґ kahr bokґsə lās) [EC 6.4.1.3] an enzyme of the ligase class that catalyzes the carboxylation of propionyl CoA to form methylmalonyl CoA; the reaction is part of the route by… …   Medical dictionary

  • Holocarboxylase synthetase deficiency — Infobox Disease Name = PAGENAME Caption = Biotin DiseasesDB = 32709 ICD10 = ICD9 = ICDO = OMIM = 253270 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 1020 MeshID = D028922 | Holocarboxylase synthetase deficiency is an inherited metabolic… …   Wikipedia

  • Biotinidasemangel — Klassifikation nach ICD 10 D81.8 Biotinabhängiger Carboxylase Mangel …   Deutsch Wikipedia

  • Biotin — Biotin[1] …   Wikipedia

  • List of diseases (M) — A list of diseases in the English wikipedia.DiseasesTOC MaMac* Mac Ardle disease * Mac Dermot Patton Williams syndrome * Mac Dermot Winter syndromeMaci Macr* Macias Flores Garcia Cruz Rivera syndrome * Mackay Shek Carr syndrome * Macleod Fraser… …   Wikipedia

Share the article and excerpts

Direct link
… Do a right-click on the link above
and select “Copy Link”