3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals
Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine metabolism caused by mutations in MCCC1 or MCCC2 encoding the α and β subunit of MCC, respectively. The phenotype is highly variable ranging from acute neonatal onset with fatal outcome to asympt...
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| Autori principali: | , |
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| Natura: | Article (Journal) |
| Lingua: | inglese |
| Pubblicazione: |
2012
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| In: |
Orphanet journal of rare diseases
Year: 2012, Volume: 7 |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/1750-1172-7-31 |
| Accesso online: | Verlag, kostenfrei, Volltext: http://dx.doi.org/10.1186/1750-1172-7-31 Verlag, kostenfrei, Volltext: https://doi.org/10.1186/1750-1172-7-31 
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| Note sull'autore: | Sarah C. Grünert, Martin Stucki, Raphael J. Morscher, Terttu Suormala, Celine Bürer, Patricie Burda, Ernst Christensen, Can Ficicioglu, Jürgen Herwig, Stefan Kölker, Dorothea Möslinger, Elisabetta Pasquini, René Santer, K. Otfried Schwab, Bridget Wilcken, Brian Fowler, Wyatt W. Yue and Matthias R. Baumgartner |
| Riassunto: | Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine metabolism caused by mutations in MCCC1 or MCCC2 encoding the α and β subunit of MCC, respectively. The phenotype is highly variable ranging from acute neonatal onset with fatal outcome to asymptomatic adults. |
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| Descrizione del documento: | Published: 29 May 2012 Gesehen am 21.06.2018 |
| Descrizione fisica: | Online Resource |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/1750-1172-7-31 |