Novel mutations in a Thai patient with methylmalonic acidemia.
A Thai patient with methylmalonic acidemia (MMA) and no methylmalonyl-CoA mutase (MCM, EC 5.4.99.2) activity in leukocytes in the presence of deoxyadenosyl cobalamin (mut(0)) was found to be heterozygous for two novel mutations: 1048delT and 1706_1707delGGinsTA (G544X), inherited from her mother and father, respectively. The proband was also heterozygous for the polymorphism, A499T, which did not affect the activity of recombinant MCM.
Champattanachai
Voraratt
V
Laboratory of Biochemistry, Chulabhorn Research Institute, Vipavadee-Rangsit Highway, Bangkok 10210, Thailand.
Ketudat Cairns
James R
JR
Shotelersuk
Vorasuk
V
Keeratichamroen
Siriporn
S
Sawangareetrakul
Phannee
P
Srisomsap
Chantragan
C
Kaewpaluek
Verachai
V
Svasti
Jisnuson
J
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007962:Leukocytes / Q000201:enzymology; D008764:Methylmalonic Acid / Q000652:urine*; D008765:Methylmalonyl-CoA Mutase / Q000172:deficiency* / Q000235:genetics*; D009154:Mutation; D013785:Thailand
D008764:Methylmalonic Acid; D008765:Methylmalonyl-CoA Mutase