SNP Shot: Genomic Insights

3-hydroxyacyl-CoA dehydrogenase deficiency is a genetic disorder where the body struggles to process certain fats into energy, especially when the body is fasting.

The first symptoms usually appear in infancy or early childhood and can involve reduced appetite, vomiting, diarrhea, and extreme tiredness (lethargy). Individuals with this condition may also experience muscle weakness (hypotonia), liver issues, low blood sugar (hypoglycemia), and elevated insulin levels (hyperinsulinism). Insulin regulates how glucose moves from the bloodstream into cells for energy production. People with 3-hydroxyacyl-CoA dehydrogenase deficiency are susceptible to complications like seizures, severe heart and breathing difficulties, coma, and even sudden death. This deficiency may be a factor in some instances of sudden infant death syndrome (SIDS), which refers to unexplained infant deaths before the age of one.

Fasting or illnesses, such as viral infections, can trigger problems associated with 3-hydroxyacyl-CoA dehydrogenase deficiency. This condition is sometimes confused with Reye syndrome, a serious disorder that can occur in children recovering from viral infections like chickenpox or the flu. Reye syndrome is often linked to aspirin use during these viral infections.

Inheritance:

This condition follows an autosomal recessive inheritance pattern. This means that an individual must inherit a mutated copy of the responsible gene from both parents to develop the condition. The parents, who each carry a single copy of the mutated gene, usually don't exhibit any signs or symptoms of the deficiency.