Clinical and Metabolic Abnormalities in a Boy with Dietary Deficiency of Biotin

摘要: Dietary deficiency of biotin was documented in an 11-year-old retarded boy as a consequence dietary prescription containing raw eggs. Clinical manifestations were alopecia totalis and erythematous, exfoliative dermatosis. Metabolic characteristics included increased excretion 3-methylcrotonylglycine, 3-hydroxyisovaleric acid, 3-hydroxypropionic methylcitric lactic well propensity for the development ketosis. The activities propionyl coenzyme A carboxylase 3-methylcrotonyl extracts leukocytes deficient. Treatment with removal eggs, which contain biotin-binding protein, avidin, from diet led to reversal all clinical metabolic observed.