The<unk>  gene is located on the short (p) arm of chromosome 3 at position 25, from base pair 15,618,326 to base pair 15,662,328. Mutations in the<unk>  gene cause<unk>  deficiency. Approximately 100 mutations in the<unk>  gene that lead to<unk>  deficiency have been discovered. These mutations either prevent the enzyme from being made or cause the enzyme that is produced to be nonfunctional. This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.
Biotinidase
Amidase
Disaccharidase
Pegaspargase
Iduronidase
Glucuronosyltransferase
Imlifidase
Transaminase