The human body cannot produce biotin, but it can obtain it from the diet, internal recycling and at some extent from intestinal bacteria.
Deficient biotinidase activity causes specific metabolic enzymes, called carboxylases, to be nonfunctional, inhibiting the proper processing of proteins, fats, and carbohydrates.
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.
[2] BTD gene variant database This article incorporates public domain material from Genetics Home Reference.