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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