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

• Main Authors: Junling Wang (Author), Zhimei Liu (Author), Manting Xu (Author), Xiaodi Han (Author), Changhong Ren (Author), Xinying Yang (Author), Chunhua Zhang (Author), Fang Fang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-03-01T00:00:00Z.
• Subjects: article
• Online Access: 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...