What Your Test Results Mean:

Test results indicate that you are a carrier of long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD). Carriers are not expected to show symptoms. You and your partner or donor would both have to be carriers of LCHAD 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:

LCHAD deficiency is an inherited metabolic disorder that prevents the body from converting certain types of fats into energy. LCHAD deficiency is usually diagnosed in infancy or early childhood, when the affected individual presents with symptoms such as vomiting, low blood sugar, lack of energy, muscle weakness, liver problems, and failure to thrive. Partially metabolized fatty acids can accumulate in body tissues and cause organ damage if the disease goes untreated. This puts affected individuals at a higher risk for heart and breathing problems, comas, and seizures. The symptoms are especially noticeable when the individual goes for a long time between meals, suffers from a viral infection, or engages in intense exercise. Thus, it is important to ensure that children with LCHAD deficiency eat frequent meals, preferably high in carbohydrates and low in fats. Women whose fetuses have LCHAD deficiency are at an increased risk for pregnancy complications and should consult their doctor.

Prognosis:

Prognosis is typically poor, with almost 40% of affected infants dying in the first three months of life. Morbidity in those that survive the first few months is also high, with recurrent metabolic crises and muscle problems despite therapy.

Treatment:

Management is typically overseen by a group of metabolic specialists. Treatment involves a low-fat, high-carbohydrate diet. Survival can be improved by early diagnosis, but morbidity remains high despite current treatment options.