What Your Test Results Mean:

Carriers typically show no symptoms of SCADD; however, carriers are at an increased risk of having a child with SCADD. Risk for the current or future pregnancies is dependent on your partner’s carrier status. Carrier testing of your partner is recommended in addition to consultation with a genetic counselor.

Disease Explained:

SCADD is an inherited metabolic disorder that prevents the body from converting certain types of fats into energy. SCADD is usually diagnosed in infancy or early childhood, when the affected individual presents with symptoms such as vomiting, low blood sugar, lack of energy, and failure to thrive. The symptoms are especially noticeable when the individual goes for a long time between meals or suffers from a viral infection. Thus, it is important to ensure that children with SCADD eat frequent meals, preferably high in carbohydrates and low in fats. The prognosis of an affected individual depends on the severity of the symptoms. Management is typically overseen by a group of metabolic specialists.

How the Genetics Works:

SCADD is an autosomal recessive metabolic disorder caused by pathogenic variants in the ACADS gene. In general, individuals have two copies of the ACADS gene. Carriers of SCADD have a single variant in one copy of the ACADS gene while individuals with SCADD have variants in both copies of their genes, one inherited from each parent. Risk for two carriers to have a child with the disorder is 25%.