title: Seventeen novel mutations that cause profound biotinidase deficiency.
abstract: We report 17 novel mutations that cause profound biotinidase deficiency. Six of the mutations are due to deletions, whereas the remaining 11 mutations are missense mutations located throughout the gene and encode amino acids that are conserved in mammals. Our results increase the total number of different mutations that cause biotinidase deficiency to 79. These additional mutations will undoubtedly be helpful in identifying structure/function relationships once the three-dimensional structure of biotinidase is determined.
mesh_terms: D000581:Amidohydrolases / Q000172:deficiency* / Q000235:genetics*; D019943:Amino Acid Substitution; D001710:Biotin / Q000627:therapeutic use; D043523:Biotinidase; D028921:Biotinidase Deficiency / Q000188:drug therapy / Q000201:enzymology* / Q000235:genetics*; D002675:Child, Preschool; D016368:Frameshift Mutation; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D020125:Mutation, Missense; D010641:Phenotype; D017384:Sequence Deletion
chemical_list: D001710:Biotin; D000581:Amidohydrolases; D043523:Biotinidase