2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: An X-link-ed inborn error of isoleucine metabolism that may mimic a mitochondrial disease

• 2-甲基-3-羟基乙酰基-CoA脱氢酶缺乏:一个表现与线粒体病相类似的X性连锁先天性异亮氨酸代谢缺陷