Biotin-responsive alopecia and developmental regression.
A 10-month-old boy presented with dermatitis and alopecia and became severely hypotonic. Screening for urinary organic acids revealed a large quantity of 3-hydroxyisovaleric acid and raised levels of beta-methylcrotonylglycine and 3-hydroxypropionate. Activities of propionyl CoA carboxylase, beta-methylcrotonyl CoA carboxylase, and pyruvate carboxylase in cultured fibroblasts were normal. Treatment with oral biotin resulted in a dramatic clinical improvement, which might therefore suggest a defect in biotin absorption or transport.
D000505:Alopecia / Q000188:drug therapy* / Q000209:etiology; D001710:Biotin / Q000627:therapeutic use*; D002245:Carbon Dioxide; D003437:Crotonates; D003872:Dermatitis / Q000188:drug therapy* / Q000209:etiology; D006801:Humans; D007223:Infant; D008025:Ligases / Q000172:deficiency; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis; D009123:Muscle Hypotonia / Q000188:drug therapy* / Q000209:etiology
D003437:Crotonates; D002245:Carbon Dioxide; D001710:Biotin; D008025:Ligases