Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/1756
Título: 3- Methylcrotonyl-coa Carboxylase Deficiency: Biochemical and Molecular Studies in 36 Patients
Autor: Fonseca, Helena
Sousa, Carmen
Marcão, Ana
Rocha, Hugo
Lopes, Lurdes
Vilarinho, Laura
Palavras-chave: 3-methylcrotonyl-CoA Carboxylase
Doenças Genéticas
Data: 22-Mar-2013
Editora: Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
Resumo: 3-methylcrotonylglycinuria (MCG) is a disease included in the expanded newborn screening that until recently was considered a rare inherited disorder of the metabolism. In the catabolism of leucine, MCG is blocked in the fourth step due to deficiency of the enzyme 3-methylcrotonyl-CoA carboxylase (3-MCC) (Dantas et al). The biochemical diagnosis of disability in 3-MCC is characterized by marked increase of acid 3-hydroxyisovaleric (3-HIVA) and 3-methylcrotonylglycine (3-MCG) in urine and high concentrations of 3-hydroxyisovalerylcarnitine (C5-OH) in the blood. The molecular characterization is the study of genes MCCA and MCCB that encodes the enzyme 3-MCC. The authors report biochemical and mutation data of 36 MCC deficient individuals, one diagnosed due to clinical symptoms, 25 identified by newborn screening and 10 mothers identified following the positive newborn screening of their sons. All patients had an increased value of C5-OH, primary biochemical marker screening for this condition. In this cohort of 36 patients the genetic study intended to identify the pathogenic mutations using an analysis of 19 exons in the MCCA gene and 17 exons in the MCCB gene. A total of 32 mutations were detected of which 24 (75%) have, neither been described in the literature nor in the Human Gene Mutation Database. The results described show that the genotype cannot predict the phenotype or metabolic risk of these cases, but it is capable to confirm the diagnosis in doubtful cases. The clinical phenotype is very heterogeneous, most patients showing different mutations making the phenotype-genotype correlation difficult. The 3-MCC deficiency is a pathology not completely understood described as a genetic condition with low clinic penetrance. However, it can lead to a severe clinic phenotype resembling classic organic acidurias, has it was recently demonstrated by Grunert et al. Dantas, M. F., T. Suormala, et al. (2005). 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
URI: http://hdl.handle.net/10400.18/1756
Versão do Editor: http://spdm2013.asic.pt/pdf/spdm2013_livro_resumos_final.pdf
Aparece nas colecções:DGH - Apresentações orais em encontros internacionais

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