Genetics
The BTD 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 BTD gene cause biotinidase deficiency.
Approximately 100 mutations in the BTD gene that lead to biotinidase 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.
Read more about this topic: Biotinidase