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Case Reports
. 1976 Aug;51(8):636-8.
doi: 10.1136/adc.51.8.636.

Organic aciduria. Treatable cause of floppy infant syndrome

B R Keeton
Case Reports

Organic aciduria. Treatable cause of floppy infant syndrome

B R Keeton. 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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References

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