BTD
Associated conditions:
- Biotinidase deficiency
BTD makes biotinidase, the enzyme that recycles the vitamin biotin so the body can keep reusing it for energy production. Genetic changes in both copies of this gene are associated with an autosomal recessive deficiency that can cause seizures, developmental delay, hearing loss and skin problems. Knowing your genetic status enables simple daily biotin supplements that fully prevent these effects.
Conditions linked to BTD
Biotinidase deficiency
Biotinidase deficiency stops the body from recycling biotin, a B vitamin. Untreated it can cause seizures and developmental and skin problems, but it is fully manageable: lifelong biotin supplements prevent symptoms, which is why newborns are screened for it.
