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Title: Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia
Authors: Nithiwat Vatanavicharn
Voraratt Champattanachai
Somporn Liammongkolkul
Phannee Sawangareetrakul
Siriporn Keeratichamroen
James R. Ketudat Cairns
Chantragan Srisomsap
Achara Sathienkijkanchai
Vorasuk Shotelersuk
Mahattana Kamolsilp
Duangrurdee Wattanasirichaigoon
Jisnuson Svasti
Pornswan Wasant
Mahidol University
Chulabhorn Research Institute
Suranaree University of Technology
Chulalongkorn University
King Chulalongkorn Memorial Hospital, Faculty of Medicine Chulalongkorn University
Phramongkutklao College of Medicine
Keywords: Biochemistry, Genetics and Molecular Biology;Medicine
Issue Date: 1-Aug-2012
Citation: Molecular Genetics and Metabolism. Vol.106, No.4 (2012), 424-429
Abstract: Isolated methylmalonic acidemia (MMA) is a genetically heterogeneous organic acid disorder caused by either deficiency of the enzyme methylmalonyl-CoA mutase (MCM), or a defect in the biosynthesis of its cofactor, adenosyl-cobalamin (AdoCbl). Herein, we report and review the genotypes and phenotypes of 14 Thai patients with isolated MMA. Between 1997 and 2011, we identified 6 . mut patients, 2 . cblA patients, and 6 . cblB patients. The . mut and . cblB patients had relatively severe phenotypes compared to relatively mild phenotypes of the . cblA patients. The . MUT and . MMAB genotypes were also correlated to the severity of the phenotypes. Three mutations in the . MUT gene: c.788G > T (p.G263V), c.809_812dupGGGC (p.D272Gfs*2), and c.1426C > T (p.Q476*); one mutation in the . MMAA gene: c.292A > G (p.R98G); and three mutations in the . MMAB gene: c.682delG (p.A228Pfs*2), c.435delC (p.F145Lfs*69), and c.585-1G > A, have not been previously reported. RT-PCR analysis of a common intron 6 polymorphism (c.520-159C > T) of the . MMAB gene revealed that it correlates to deep intronic exonization leading to premature termination of the open reading frame. This could decrease the ATP:cobalamin adenosyltransferase (ATR) activity resulting in abnormal phenotypes if found in a compound heterozygous state with a null mutation. We confirm the genotype-phenotype correlation of isolated MMA in the study population, and identified a new molecular basis of the . cblB disorder. © 2012 Elsevier Inc.
ISSN: 10967206
Appears in Collections:Scopus 2011-2015

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