Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis

Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis

3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is an autosomal recessive disorder characterized by episodes of ketoacidosis and a Leigh-like basal ganglia disease, without high concentrations of pyruvate and lactate in the cerebrospinal fluid. Only 4 cases of HIBCH deficiency have been reporte...

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Bibliographic Details
Main Authors: Kenichiro Yamada, Misako Naiki, Shin Hoshino, Yasuyuki Kitaura, Yusuke Kondo, Noriko Nomura, Reiko Kimura, Daisuke Fukushi, Yasukazu Yamada, Nobuyuki Shimozawa, Seiji Yamaguchi, Yoshiharu Shimomura, Kiyokuni Miura, Nobuaki Wakamatsu
Format: Article
Language:English
Published: Elsevier 2014-01-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
HIBCH
Valine catabolic pathway
Leigh-like disease
Ketoacidosis
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426914000688

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http://www.sciencedirect.com/science/article/pii/S2214426914000688

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