ArticleJournal of inherited metabolic disease2008
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
Article in Journal of inherited metabolic disease, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 2 of them syntheses that pooled it.
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Who cites it
30 citing papers in PubMed, 2 syntheses or guidelines pooled it, 57 citations in OpenAlex.
- Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia.Pediatric research · 2025Pooled it
- Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin BCell reports. Medicine · 2022Pooled it
- Late-onset severe axonal polyneuropathy in mut0 methylmalonic acidemia after liver-kidney transplantation: a genotype-informed case report.BMC neurology · 2026Article
- Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives.Frontiers in nutrition · 2026Review
- Clinical spectrum and genetic variation of six patients with methylmalonic aciduria (MMA); a report from Iran.BMC pediatrics · 2024Article
- Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect.Molecular genetics and metabolism reports · 2024Article
- Architecture of the human G-protein-methylmalonyl-CoA mutase nanoassembly for BNature communications · 2023Article
- Identification of Novel Mutations in the MMAA and MUT Genes among Methylmalonic Aciduria Families.Iranian biomedical journal · 2023Article
- Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.Journal of inherited metabolic disease · 2022Article
- Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report.BMC pediatrics · 2021Article
- Long-term follow-up with filter paper samples in patients with propionic acidemia.JIMD reports · 2021Article
- Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related toMolecular genetics and metabolism reports · 2020Article
- Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.Molecular biology reports · 2019Article
- Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings.BMC medical genetics · 2018Article
- Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.World journal of pediatrics : WJP · 2018Article
- Vitamin BJIMD reports · 2017Article
- Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.The Journal of biological chemistry · 2016Article
- Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia.Human gene therapy · 2016Article
- Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.Ophthalmology · 2016Observational
- Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia.Cellular & molecular biology letters · 2016Article
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Authors and funding
20 authors at 12 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Methylmalonic 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 mut (0) 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 mut (0) 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).
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