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 homocystinuria, cobalamin E type 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:

Homocystinuria, cobalamin E type is an inherited disorder in which the body is unable to process certain building blocks of proteins properly. Affected individuals will begin to show symptoms in early childhood. Symptoms include failure to grow and gain weight at the expected rate, weak muscles, megaloblastic anemia, developmental delay, and cerebral atrophy with white matter abnormalities. If left untreated, individuals may develop abnormal eye movements, abnormal gait, and seizures.

Prognosis:

Prognosis is favorable with early diagnosis and treatment.

Treatment:

Treatment for homocystinuria, cobalamin E type involves intramuscular cobalamin injections.