ArticleMolecular biology reports2019
Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.
Article in Molecular biology reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 9 citations in OpenAlex.
- Comprehensive gene profiling by Next-Generation sequencing in a cohort of Egyptian pediatric Atypical HUS.Journal, genetic engineering & biotechnology · 2026Article
- Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients.Scientific reports · 2025Article
- Identification of a biallelic MMUT variant (p.Thr230Arg) and its global perspective on clinical management.Molecular biology reports · 2024Article
- Associations between elevated uric acid and brain imaging abnormalities in pediatric patients with methylmalonic acidemia under 5 years of age.Scientific reports · 2024Article
- A high frequency and geographical distribution of MMACHC R132* mutation in children with cobalamin C defect.Amino acids · 2021Article
- Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report.BMC medical genetics · 2020Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Methylmalonic acidemia (MMA), an inherited metabolic disease, results from genetic defects in methylmalonyl-CoA mutase or any of the proteins involved in adenosylcobalamin synthesis. This enzyme is classified into several complementation groups and genotypic classes. In this work we explain the biochemical, structural and genetic analysis of 25 MMA patients, from Iran. The diagnosis was established by the measurement of propionylcarnitine in blood using tandem mass spectrometry and confirmed using a gas chromatography-flame ionization detector. Using clinical, biochemical, structural and molecular analyses we identified 15 mut MMA, three cblA, one cblB, and four cblC-deficient patients. Among mutations identified in the MUT gene (MUT) only one, the c.1874A>C (p.D625A) variant, is likely a mut
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