Case Reports
doi: 10.1136/adc.51.8.636.
Organic aciduria. Treatable cause of floppy infant syndrome
- PMID: 962376
- PMCID: PMC1546117
- DOI: 10.1136/adc.51.8.636
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Case Reports
Organic aciduria. Treatable cause of floppy infant syndrome
Arch Dis Child.
1976 Aug.
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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