Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501-1194, Japan.
Mol Genet Metab. 2010 May;100(1):37-41. doi: 10.1016/j.ymgme.2010.01.007. Epub 2010 Jan 21.
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have been identified and more than 70 mutations have been identified in 70 patients with T2 deficiency (including unpublished data).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.
线粒体乙酰乙酰辅酶 A 硫解酶（T2）缺乏症是一种影响异亮氨酸分解代谢和酮体利用的先天性代谢错误。这种疾病的临床特征是间歇性酮症酸中毒发作，发作之间没有临床症状。一般来说，T2 基因突变具有异质性。尚未发现共同突变，在 70 名 T2 缺乏症患者中已发现 70 多种突变（包括未发表的数据）。我们在此鉴定了越南患者中的一种常见突变 R208X。在 8 名越南患者中，我们鉴定了 6 名患者为纯合子 R208X，2 名患者为杂合子 R208X。在 2 名荷兰患者中也发现了杂合子 R208X，但当使用 T2 基因中的 Msp I 和 Taq I 多态性分析时，越南患者的 R208X 突变等位基因与荷兰患者的不同单倍型。由于我们使用 Nla III 限制酶分析未能在 400 名健康越南对照中发现该突变等位基因，因此 R208X 突变等位基因在越南并不常见。T2 缺乏症的 DNA 诊断可能适用于越南人群。
