Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype.
Wolf
Barry
B
D000581:Amidohydrolases / Q000172:deficiency* / Q000235:genetics; D001317:Austria / Q000453:epidemiology; D001710:Biotin / Q000627:therapeutic use*; D043523:Biotinidase; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008403:Mass Screening; D009100:Multiple Carboxylase Deficiency / Q000188:drug therapy* / Q000453:epidemiology
D001710:Biotin; D000581:Amidohydrolases; D043523:Biotinidase