Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl

Abstract 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 a...

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Principais autores:	Carla Cozzolino, Guglielmo RD Villani, Giulia Frisso, Emanuela Scolamiero, Lucia Albano, Giovanna Gallo, Roberta Romanelli, Margherita Ruoppolo
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Sociedade Brasileira de Genética 2018-05-01
סדרה:	Genetics and Molecular Biology
נושאים:	3-Methylcrotonylglycinuria MCCC2 mutations 3-methylcrotonyl-CoA carboxylase deficiency newborn screening organic aciduria
גישה מקוונת:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018005007106&lng=en&tlng=en
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