Organic aciduria. Treatable cause of floppy infant syndrome. |
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Authors: | B R Keeton |
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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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