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Authors: Célia Nogueira 1 ; Marta Marques 1 and Laura Vilarinho 2

Affiliations: 1 Medical Genetics Center/ National Institute of Health, Portugal ; 2 Medical Genetics Center/National institute of Health, Portugal

ISBN: 978-989-674-019-1

Keyword(s): Methylmalonic acidurias, mut0, mut-, MUT gene, MMACHC gene.

Related Ontology Subjects/Areas/Topics: Bioinformatics ; Biomedical Engineering ; Biostatistics and Stochastic Models ; Genomics and Proteomics ; Pharmaceutical Applications ; Sequence Analysis

Abstract: The methylmalonic acidurias (MMAs) are metabolic disorders resulting from deficient methylmalonyl-CoA mutase (MCM) activity, a vitamin B12-dependent enzyme that uses adenosylcobalamin (Ado-Cbl) as a cofactor. Several mutant genetic classes that cause MMA are known based on biochemical, enzymatic and genetic complementation analysis. The mut0/mut- defects result from deficiency of MCM, while the cblA, cblB and the variant 2 form of cblD complementation groups are linked to processes unique to Ado-Cbl synthesis. The cblC, cblD and cblF complementation groups are associated with defective methyl-cobalamin synthesis as well. Mutations in the genes associated with most of these defects have been described. In this study we investigate at molecular level four patients with mut0/mut- MMA phenotype and 19 Portuguese patients with cblC defect. We found four different mutations already described in the literature, in each MUT and MMACHC genes, respectively. Our data showed an evident difference in the prevalence of these two diseases, compared with other countries worldwide. (More)

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Paper citation in several formats:
Nogueira C.; Marques M.; Vilarinho L. and (2010). METHYLMALONIC ACIDURIAS - mut0/mut- and cblC Defects in Portuguese Population.In Proceedings of the First International Conference on Bioinformatics - Volume 1: BIOINFORMATICS, (BIOSTEC 2010) ISBN 978-989-674-019-1, pages 261-263. DOI: 10.5220/0002759802610263

@conference{bioinformatics10,
author={Célia Nogueira and Marta Marques and Laura Vilarinho},
title={METHYLMALONIC ACIDURIAS - mut0/mut- and cblC Defects in Portuguese Population},
booktitle={Proceedings of the First International Conference on Bioinformatics - Volume 1: BIOINFORMATICS, (BIOSTEC 2010)},
year={2010},
pages={261-263},
publisher={SciTePress},
organization={INSTICC},
doi={10.5220/0002759802610263},
isbn={978-989-674-019-1},
}

TY - CONF

JO - Proceedings of the First International Conference on Bioinformatics - Volume 1: BIOINFORMATICS, (BIOSTEC 2010)
TI - METHYLMALONIC ACIDURIAS - mut0/mut- and cblC Defects in Portuguese Population
SN - 978-989-674-019-1
AU - Nogueira, C.
AU - Marques, M.
AU - Vilarinho, L.
PY - 2010
SP - 261
EP - 263
DO - 10.5220/0002759802610263

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