SNP Shot: Genomic Insights

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency disrupts the body's ability to break down specific fats for energy, particularly when food intake is limited (fasting periods).

Symptoms of SCAD deficiency can manifest in infancy or early childhood. These can involve vomiting, low blood sugar (hypoglycemia), reduced energy levels (lethargy), feeding difficulties, and inadequate weight gain and growth (failure to thrive). Additional signs can include weak muscle tone (hypotonia), seizures, delayed development, and an abnormally small head size (microcephaly).

Fasting or illnesses, like viral infections, can trigger SCAD deficiency symptoms. The condition can sometimes be confused with Reye syndrome, a serious illness that can occur in children recovering from viral infections like chickenpox or influenza. Reye syndrome is often linked to aspirin use during these viral infections.

In some individuals, SCAD deficiency symptoms don't emerge until adulthood. These individuals are more prone to experiencing muscle weakness and muscle loss.

The severity of SCAD deficiency differs considerably, even within the same family. Some people are diagnosed through lab tests but never exhibit any symptoms of the condition.

Inheritance:

SCAD deficiency follows an autosomal recessive inheritance pattern. This means that both copies of the responsible gene in each cell must have mutations for the condition to develop. The parents of someone with an autosomal recessive condition each carry one copy of the mutated gene but usually don't display any symptoms themselves.