Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia.
Molecular genetic analysis of three patients diagnosed with isolated methylmalonic acidemia (MMA) revealed that one was mut (0) MMA, with a mutation in the MUT gene encoding the L: -methylmalonyl-CoA mutase (MCM), and two were cblB MMA, with mutations in the MMAB gene required for synthesizing the deoxyadenosylcobalamin cofactor of MCM. The mut (0) patient was homozygous for a novel nonsense mutation in MUT, p.R31X (c.167C --> T), and heterozygous for three previously described polymorphisms, p.K212K (c.712A --> G), p.H532R (c.1671A --> G), and p.V671I (c.2087G --> A). The new MMAB mutation, p.E152X (c.454G --> T), was found to be homozygous in one cblB patient and heterozygous in the other patient, who also had four intron polymorphisms in this gene.
Keeratichamroen
Siriporn
S
Laboratory of Biochemistry, Chulabhorn Research Institute, Vibhavadee Rangsit Road, Bangkok, 10210, Thailand.
Cairns
James R Ketudat
JR
Sawangareetrakul
Phannee
P
Liammongkolkul
Somporn
S
Champattanachai
Voraratt
V
Srisomsap
Chantragan
C
Kamolsilp
Mahattana
M
Wasant
Pornswan
P
Svasti
Jisnuson
J
D000138:Acidosis / Q000175:diagnosis / Q000235:genetics*; D019883:Alkyl and Aryl Transferases / Q000235:genetics*; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008764:Methylmalonic Acid / Q000652:urine*; D008765:Methylmalonyl-CoA Mutase / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D013785:Thailand
D008764:Methylmalonic Acid; D019883:Alkyl and Aryl Transferases; C019920:cob(I)alamin adenosyltransferase; D008765:Methylmalonyl-CoA Mutase