SNP Shot: Genomic Insights

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a metabolic disorder that hinders the body's ability to break down certain fats into energy, especially when food intake is limited or during fasting periods.

Typically, the signs and symptoms of MCAD deficiency manifest in infancy or early childhood. These can encompass vomiting, extreme tiredness or lack of energy (lethargy), and dangerously low blood sugar levels (hypoglycemia). While less common, some individuals with MCAD deficiency may not experience symptoms until adulthood. Regardless of when symptoms appear, those with MCAD deficiency face the risk of severe health issues including seizures, breathing problems, liver dysfunction, brain damage, coma, and even sudden death.

Fasting periods or illnesses, such as viral infections, can trigger complications associated with MCAD deficiency. Due to overlapping symptoms, MCAD deficiency is sometimes misdiagnosed as Reye syndrome, a serious condition that can occur in children recovering from viral illnesses like chickenpox or influenza. Notably, Reye syndrome is often linked to aspirin use during these viral infections.

Inheritance:

MCAD deficiency is inherited through an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. The parents, who each carry only one copy of the mutated gene, are typically asymptomatic.