BIOTINIDASE DEFICIENCY
A Booklet for Families & ProfessionalsPOINTS TO REMEMBER
Biotinidase deficiency is a rare, treatable, genetic condition in which the body cannot use dietary biotin.
Infants may be identified by newborn screening before symptoms develop or a diagnosis may be made in an older infant or child who has been experiencing some of the following problems: seizures, hair loss, skin rash, and developmental delay.
Lifelong treatment with prescribed doses of biotin is very effective in preventing or improving most symptoms.
Parents who have a child with biotinidase deficiency have a 1 in 4 or 25% chance with each pregnancy of having another child with biotinidase deficiency.
Other family members may also carry the gene for biotinidase deficiency.
Carrier testing and prenatal testing is available.
It is possible to determine the mutation(s) in the biotinidase gene of your child that causes biotinidase deficiency (experimental).
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