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Article

Valine-restricted diet for patients with ECHS1 deficiency: Divergent clinical outcomes in two Japanese siblings.

Brain & development - 1 Feb 2021

Sato-Shirai Ikuko, Ogawa Erika, Arisaka Atsuko, Osaka Hitoshi, Murayama Kei, Kuwajima Mari, Watanabe Miyuki, Ichimoto Keiko, Ohtake Akira, Kumada Satoko

Abstract excerpt

BACKGROUND: ECHS1 is a key enzyme of the valine catabolic pathway and oxidation of fatty acids. In ECHS1 deficiency (ECHS1D), accumulation of toxic intermediates from the valine induces neurodegeneration, which presents Leigh syndrome (LS). Therefore, valine restriction is suggested as an effective therapy. Further, cysteamine may detoxify the toxic metabolites themselves and N-acetylcysteine (NAC) is a potent...

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Identifiers

PMID: 33139125
DOI: 10.1016/j.braindev.2020.10.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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