Organic aciduria. Treatable cause of floppy infant syndrome

有机酸尿症。可治疗的婴儿肌张力低下综合征病因

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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.

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