Biotinidase Deficiency

Newborns with biotinidase deficiency appear normal at birth. Biotin deficiency develops over time with clinical symptoms beginning at a few weeks to several years of age. If untreated, patients will develop metabolic ketoacidosis and organic aciduria.  Biotinidase deficiency is treated with oral biotin supplementation, which prevents development of the clinical symptoms. People with only one copy of the disease gene (called carriers) generally do not show signs or symptoms of the condition but can pass the disease gene to their children. When both parents are carriers of the disease gene for a particular disorder, there is a 25% chance with each pregnancy that they will have a child affected with the disorder.