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Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group

Authordc.contributor.authorMerinero, B. 
Authordc.contributor.authorPérez, B. es_CL
Authordc.contributor.authorPérez Cerda, C. es_CL
Authordc.contributor.authorRincón, A. es_CL
Authordc.contributor.authorDesviat, L. R. es_CL
Authordc.contributor.authorMartínez, M. A. es_CL
Authordc.contributor.authorRuiz Sala, P es_CL
Authordc.contributor.authorGarcía, M. J. es_CL
Authordc.contributor.authorAldamiz Echevarría, L. es_CL
Authordc.contributor.authorCampos, J. es_CL
Authordc.contributor.authorCornejo Espinoza, Verónica es_CL
Authordc.contributor.authorToro, M. del es_CL
Authordc.contributor.authorMahfoud, A. es_CL
Authordc.contributor.authorMartínez Pardo, M. es_CL
Authordc.contributor.authorParini, R. es_CL
Authordc.contributor.authorPedrón, C. es_CL
Authordc.contributor.authorPeña Quintana, L. es_CL
Authordc.contributor.authorPérez, M. es_CL
Authordc.contributor.authorPourfarzam, M. es_CL
Authordc.contributor.authorUgarte, M. es_CL
Cita de ítemdc.identifier.citationJOURNAL OF INHERITED METABOLIC DISEASE Volume: 31 Issue: 1 Pages: 55-66 Published: FEB 2008en_US
Abstractdc.description.abstractMethylmalonic acidaemia (MMA) is a genetic disorder caused by defects in methylmalonyl-CoA mutase or in any of the different proteins involved in the synthesis of adenosylcobalamin. The aim of this work was to examine the biochemical and clinical phenotype of 32 MMA patients according to their genotype, and to study the mutant mRNA stability by real-time PCR analysis. Using cellular and biochemical methods, we classified our patient cohort as having the MMA forms mut (n = 19), cblA (n = 9) and cblB (n = 4). All the mute and some of the cblB patients had the most severe clinical and biochemical manifestations, displaying non-inducible propionate incorporation in the presence of hydroxocobalamin (OHCbl) in vitro and high plasma odd-numbered long-chain fatty acid (OLCFA) concentrations under dietary therapy. In contrast, mut and cblA patients exhibited a milder phenotype with propionate incorporation enhanced by OHCbl and normal OLCFA levels under dietary therapy. No missense mutations identified in the MUT gene, including mute and mut changes, affected mRNA stability. A new sequence variation (c.562G>C) in the MMAA gene was identified. Most of the cblA patients carried premature termination codons (PTC) in both alleles. Interestingly, the transcripts containing the PTC mutations were insensitive to nonsense-mediated decay (NMD).en_US
Títulodc.titleMethylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation groupen_US
Document typedc.typeArtículo de revistaen_US

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