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 deoxy...

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Veröffentlicht in:	Biochemical genetics 2007-06, Vol.45 (5-6), p.421-430
Hauptverfasser:	Keeratichamroen, Siriporn, Cairns, James R. Ketudat, Sawangareetrakul, Phannee, Liammongkolkul, Somporn, Champattanachai, Voraratt, Srisomsap, Chantragan, Kamolsilp, Mahattana, Wasant, Pornswan, Svasti, Jisnuson
Format:	Artikel
Sprache:	eng
Schlagworte:	Acidosis - diagnosis Acidosis - genetics Alkyl and Aryl Transferases - genetics Amino Acid Metabolism, Inborn Errors - genetics cblB Cofactors DNA Mutational Analysis Female Gene polymorphism Genes Genetic analysis Genotype Homozygote Humans Infant Introns Male Methylmalonic Acid - urine methylmalonic acidemia Methylmalonyl-CoA Methylmalonyl-CoA mutase Methylmalonyl-CoA Mutase - genetics Mutation Mutation - genetics Nonsense mutation Phenotype Thailand
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