What Your Test Results Mean:

Carriers are not expected to show symptoms. You and your partner or donor would both have to be carriers of D-bifunctional protein deficiency for there to be an increased chance to have a child with symptoms; this is known as autosomal recessive inheritance. Carrier testing of your partner or donor is recommended in addition to consultation with a genetic counselor for a more detailed risk assessment.

Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.

Disease Explained:

D-bifunctional protein deficiency is an inherited condition that leads to neurodegeneration beginning in early infancy. Newborns with D-bifunctional protein deficiency have poor muscle tone, seizures, structural brain differences, and characteristic facial features. Most infants are unable to acquire developmental skills. Some infants may achieve developmental milestones; however, they experience a gradual loss of these skills within a few months. Most affected individuals die before two years old.

Prognosis:

Prognosis is considered poor. Most affected individuals die before the age of two.

Treatment:

There is no cure for D-bifunctional protein deficiency. Treatment is mostly symptomatic.