Organic aciduria. Treatable cause of floppy infant syndrome.
- 1 August 1976
- journal article
- case report
- Published by BMJ in Archives of Disease in Childhood
- Vol. 51 (8) , 636-638
- https://doi.org/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.Keywords
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