A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of metabolism affecting isoleucine catabolism and ketone body utilization. This disorder is clinically characterized by intermittent ketoacidotic episodes with no clinical symptoms between episodes. In general, T2 gene mutations are heterogeneous. No common mutations have been identified and more than 70 mutations have been identified in 70 patients with T2 deficiency (including unpublished data). We herein identified a common mutation, R208X, in Vietnamese patients. We identified R208X homozygously in six patients and heterozygously in two patients among eight Vietnamese patients. This R208X mutation was also identified heterozygously in two Dutch patients, however, R208X mutant alleles in the Vietnamese have a different haplotype from that in the Dutch, when analyzed using Msp I and Taq I polymorphisms in the T2 gene. The R208X mutant allele was not so frequent in the Vietnamese since we could not find that mutant allele in 400 healthy Vietnamese controls using the Nla III restriction enzyme assay. DNA diagnosis of T2 deficiency may be applicable to the Vietnamese population.
Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501-1194, Japan. toshi-gif@umim.net
Toshiyuki
T
Fukao
Hoan Thi
HT
Nguyen
Nhan Thu
NT
Nguyen
Dung Chi
DC
Vu
Ngoc Thi Bich
NT
Can
Anh Thi Van
AT
Pham
Khanh Ngoc
KN
Nguyen
Hironori
H
Kobayashi
Yuki
Y
Hasegawa
Thao Phuong
TP
Bui
Kary E
KE
Niezen-Koning
Ronald J A
RJ
Wanders
Tom
T
de Koning
Liem Thanh
LT
Nguyen
Seiji
S
Yamaguchi
Naomi
N
Kondo
D000101:Acetyl-CoA C-Acetyltransferase / Q000172:deficiency / Q000235:genetics*; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics; D044466:Asian People / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008928:Mitochondria / Q000201:enzymology; D009154:Mutation; D014744:Vietnam
D000101:Acetyl-CoA C-Acetyltransferase