Multiple carboxylase deficiency
- Multiple carboxylase deficiency
-
| 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 synthetase.[1]
These conditions respond to biotin.[2]
Forms include:
feeding problems,hypotonia,generalised erythematous rash with exfoliation and alopecia,failure to thrive,seizure,coma,developmental delay tomcat urine,metabolic acidosis,ketosis,hyperammonemia
References
External links
Categories:
- Medicine stubs
- Vitamin, coenzyme, and cofactor metabolism disorders
Wikimedia Foundation.
2010.
Look at other dictionaries:
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.);… … Medical dictionary
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
