有机酸尿症。松软婴儿综合征的可治疗病因。
Organic aciduria. Treatable cause of floppy infant syndrome.
作者信息
Keeton B R
出版信息
Arch Dis Child. 1976 Aug;51(8):636-8. doi: 10.1136/adc.51.8.636.
Abstract
A floppy infant is described who has an inborn error of organic acid metabolism due to defective activity of the enzyme beta-methylcrotonyl CoA carboxylase. She presented with hyperventilation, hypotonia, and regression of motor and intellectual development. She responded to treatment with biotin.
摘要
描述了一名松软婴儿，其患有因β-甲基巴豆酰辅酶A羧化酶活性缺陷导致的有机酸代谢先天性缺陷。她表现为呼吸急促、肌张力减退以及运动和智力发育倒退。她对生物素治疗有反应。
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