Article
Strategic validation of variants of uncertain significance in ECHS1 genetic testing.
Journal of medical genetics - 1 Oct 2023
Kishita Yoshihito, Sugiura Ayumu, Onuki Takanori, Ebihara Tomohiro, Matsuhashi Tetsuro, Shimura Masaru, Fushimi Takuya, Ichino Noriko, Nagatakidani Yoshie, Nishihata Hitomi, Nitta Kazuhiro R, Yatsuka Yukiko, Imai-Okazaki Atsuko, Wu Yibo, Osaka Hitoshi, Ohtake Akira, Murayama Kei, Okazaki Yasushi
Abstract excerpt
BACKGROUND: Enoyl-CoA hydratase short-chain 1 (ECHS1) is an enzyme involved in the metabolism of branched chain amino acids and fatty acids. Mutations in the ECHS1 gene lead to mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, resulting in the accumulation of intermediates of valine. This is one of the most common causative genes in mitochondrial diseases. While genetic analysis studies have diagnosed...
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