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...
Main Authors: | , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2014-01-01
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Series: | Molecular Genetics and Metabolism Reports |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426914000688 |