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A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

Molecular genetics and metabolism - 1 May 2010

Fukao Toshiyuki, Nguyen Hoan Thi, Nguyen Nhan Thu, Vu Dung Chi, Can Ngoc Thi Bich, Pham Anh Thi Van, Nguyen Khanh Ngoc, Kobayashi Hironori, Hasegawa Yuki, Bui Thao Phuong, Niezen-Koning Kary E, Wanders Ronald J A, de Koning Tom, Nguyen Liem Thanh, Yamaguchi Seiji, Kondo Naomi

Abstract excerpt

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...

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Identifiers

PMID: 20156697
DOI: 10.1016/j.ymgme.2010.01.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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