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2 results on '"MCCC2 mutations"'

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

Author

Carla Cozzolino, Guglielmo RD Villani, Giulia Frisso, Emanuela Scolamiero, Lucia Albano, Giovanna Gallo, Roberta Romanelli, and Margherita Ruoppolo

Subjects
3-Methylcrotonylglycinuria, MCCC2 mutations, 3-methylcrotonyl-CoA carboxylase deficiency, newborn screening, organic aciduria, Genetics, QH426-470
Abstract

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 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 mutation, c.1150-1G > A. We characterized the expression profile of the splice mutation by functional studies.

Published
2018
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2. Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl

Author

Giovanna Gallo, Lucia Albano, Emanuela Scolamiero, Roberta Romanelli, Margherita Ruoppolo, Carla Cozzolino, Guglielmo R. D. Villani, Giulia Frisso, Cozzolino, Carla, Villani, GUGLIELMO ROSARIO DOMENI, Frisso, Giulia, Scolamiero, Emanuela, Albano, Lucia, Gallo, Giovanna, Romanelli, Roberta, and Ruoppolo, Margherita

Subjects
0301 basic medicine, Newborn screening, lcsh:QH426-470, Biology, MCCC2 mutations, medicine.disease_cause, Asymptomatic, Organic aciduria, 3-methylcrotonyl-CoA carboxylase deficiency, 03 medical and health sciences, organic aciduria, Genetics, medicine, Missense mutation, 3-Methylcrotonylglycinuria, Molecular Biology, Gene, Mutation, newborn screening, 3-Methylcrotonyl-CoA carboxylase deficiency, medicine.disease, Phenotype, Molecular biology, lcsh:Genetics, 030104 developmental biology, Human and Medical Genetics, medicine.symptom, MCCC2 mutation
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 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 mutation, c.1150-1G > A. We characterized the expression profile of the splice mutation by functional studies.

Published
2018

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