Biotinidase deficiency: presymptomatic treatment.
Biotinidase deficiency presents with clinical signs of biotin deficiency at the age of 3 months, or soon after. In an infant in whom the diagnosis was made on cord blood, vision and hearing were normal before presymptomatic treatment with biotin. Physical and mental development are good at 14 months.
D000581:Amidohydrolases / Q000032:analysis / Q000172:deficiency*; D001710:Biotin / Q000172:deficiency / Q000627:therapeutic use; D043523:Biotinidase; D005312:Fetal Blood / Q000032:analysis; D006801:Humans; D007231:Infant, Newborn; D008297:Male
D001710:Biotin; D000581:Amidohydrolases; D043523:Biotinidase