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| Cozzolino,Carla; Villani,Guglielmo RD; Frisso,Giulia; Scolamiero,Emanuela; Albano,Lucia; Gallo,Giovanna; Romanelli,Roberta; Ruoppolo,Margherita. |
| 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 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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: 3-Methylcrotonylglycinuria; MCCC2 mutations; 3-methylcrotonyl-CoA carboxylase deficiency; Newborn screening; Organic aciduria. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300379 |
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