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Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl
3-Methylcrotonylglycinuria is an organic aciduria resulting from deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC), a biotin-dependent mitochondrial enzym carboxylating 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA during leucine catabolism. Its deficiency, due to mutations on MCCC1 and MCCC2...
Autores principales: | Cozzolino, Carla, Villani, Guglielmo RD, Frisso, Giulia, Scolamiero, Emanuela, Albano, Lucia, Gallo, Giovanna, Romanelli, Roberta, Ruoppolo, Margherita |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Genética
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082241/ https://www.ncbi.nlm.nih.gov/pubmed/29767664 http://dx.doi.org/10.1590/1678-4685-GMB-2017-0093 |
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