| Revista: | Genetics and molecular biology |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000418420 |
| ISSN: | 1415-4757 |
| Autores: | Cozzolino, Carla1 Villani, Guglielmo R.D2 Frisso, Giulia2 Scolamiero, Emanuela1 Albano, Lucia1 Gallo, Giovanna1 Romanelli, Roberta1 Ruoppolo, Margherita2 |
| Instituciones: | 1CEINGE Biotecnologie Avanzate, Nápoles, Campania. Italia 2Universita degli Studi di Napoli Federico II, Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Nápoles, Campania. Italia |
| Año: | 2018 |
| Periodo: | Jun |
| Volumen: | 41 |
| Número: | 2 |
| Paginación: | 379-385 |
| País: | Brasil |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Analítico |
| Resumen en inglés | 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 genes, leads to accumulation of 3-methylcrotonyl-CoA metabolites in blood and/or urine, primarily 3-hydroxyisovaleryl-carnitine (C5-OH) in plasma and 3-methylcrotonyl-glycine (3-MCG) and 3-hydroxyisovaleric acid (3-HIVA) in the urine. The phenotype of 3-MCC deficiency is highly variable, ranging from severe neurological abnormalities and death in infancy to asymptomatic adults. Here we report the biochemical and molecular characterization of an Italian asymptomatic girl, positive for the newborn screening test. Molecular analysis showed two mutations in the MCCC2 gene, an already described missense mutation, c.691A > T (p.I231F), and a novel splicing g mutation, c.1150-1G > A. We characterized the expression profile of the splice mutation by functional studies |
| Disciplinas: | Química |
| Palabras clave: | Bioquímica, Genética, Pediatría, 3-Metilcrotonilglicinuria, Mutaciones, Gen MCCC2, Deficiencia, 3-metilcrotonil-CoA carboxilasa, Detección, Recién nacidos, Aciduria orgánica |
| Keyword: | Biochemistry, Genetics, Pediatrics, 3-Methylcrotonylglycinuria, Mutations, MCCC2 gene, Deficiency, 3-methylcrotonyl-CoA carboxylase, Screening, Newborn, Organic aciduria |
| Texto completo: | Texto completo (Ver PDF) |
