An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis.
An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis.
复制标题
一种异亮氨酸分解代谢的遗传性疾病，导致 α-甲基乙酰乙酸和 α-甲基-β-羟基丁酸蓄积，以及间歇性代谢性酸中毒。
作者：
R. Daum;C. Scriver;O. Mamer;E. Delvin;P. Lamm;H. Goldman
