Biotinidase deficiency and our champagne legacy

- Biotinidase is the enzyme that recycles the vitamin, biotin.
- Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms.
- Symptoms can be prevented with biotin treatment at birth or before symptoms develop.
- Newborn screening for the disorder is performed throughout the United States and in many countries.
- This is the story of one laboratory's research from a disorder's discovery to its translation into clinical medicine.

Biotinidase is the enzyme that is necessary for the recycling of the vitamin, biotin. Biotinidase deficiency is an autosomal recessively inherited metabolic disorder. If untreated, individuals with biotinidase deficiency usually develop neurological and cutaneous symptoms that can result in coma or death. Symptomatic individuals can be markedly improved by treating them with pharmacological doses of biotin; however, some clinical features may be irreversible. Fortunately, essentially all symptoms can be prevented if treatment is initiated at birth or before the symptoms develop. Because of this, the disorder is currently screened for in newborns in all states in the United States and in many countries around the world. This is the story of one laboratory's work in bringing basic science research from the discovery of the disorder to its translation into clinical medicine and its impact on the individuals with the disorder and their families.