Organic aciduria. Treatable cause of floppy infant syndrome.
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.
D000592:Amino Acid Metabolism, Inborn Errors / Q000188:drug therapy*; D001710:Biotin / Q000627:therapeutic use*; D002087:Butyrates / Q000652:urine*; D003437:Crotonates / Q000652:urine*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008025:Ligases / Q000172:deficiency; D009129:Muscle Tonus; D009135:Muscular Diseases / Q000188:drug therapy / Q000209:etiology*; D014631:Valerates / Q000652:urine*
D002087:Butyrates; D003437:Crotonates; D014631:Valerates; D001710:Biotin; D008025:Ligases