Article
Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.
Journal of medical genetics - 1 Oct 2015
Yamada Kenichiro, Aiba Kaori, Kitaura Yasuyuki, Kondo Yusuke, Nomura Noriko, Nakamura Yuji, Fukushi Daisuke, Murayama Kei, Shimomura Yoshiharu, Pitt James, Yamaguchi Seiji, Yokochi Kenji, Wakamatsu Nobuaki
Abstract excerpt
BACKGROUND: Short-chain enoyl-CoA hydratase-ECHS1-catalyses many metabolic pathways, including mitochondrial short-chain fatty acid β-oxidation and branched-chain amino acid catabolic pathways; however, the metabolic products essential for the diagnosis of ECHS1 deficiency have not yet been determined. The objective of this report is to characterise ECHS1 and a mild form of its deficiency biochemically, and to...
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