Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome

• Autores principales: Junling Wang (Autor), Zhimei Liu (Autor), Manting Xu (Autor), Xiaodi Han (Autor), Changhong Ren (Autor), Xinying Yang (Autor), Chunhua Zhang (Autor), Fang Fang (Autor)
• Formato: Libro
• Publicado: Frontiers Media S.A., 2021-03-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

3-Hydroxyisobutyryl-CoA hydrolase (HIBCH, NM_014362.3) gene mutation can cause HIBCH deficiency, leading to Leigh/Leigh-like disease. To date, few case series have investigated the relationship between metabolites and clinical phenotypes or the effects of treatment, although 34 patients with HIBCH m...