HADHA-related disorders occur when the body lacks an enzyme called mitochondrial trifunctional protein, crucial for breaking down specific fats into energy. Without this enzyme, these fats accumulate and damage organs. Mutations in the HADHA gene cause these disorders.
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD): People with LCHADD struggle to convert long-chain fatty acids into energy, especially when they’re not eating, are sick, or doing intense exercise. Symptoms start in infancy and include weak muscles, low energy, vision loss, seizures, and even heart problems, sometimes leading to coma or death.
Mitochondrial Trifunctional Protein Deficiency (MTPD): MTPD shows similar symptoms to LCHADD, often more severe. Babies with MTPD usually don’t survive infancy. Less severe cases may not show symptoms until fasting or during illness or exercise, potentially leading to brain damage and developmental issues.
Both conditions are managed with special diets, avoiding fasting, and supplements. A low-fat, high-carb diet with frequent meals is essential. Supplements like medium-chain triglyceride oil and L-carnitine might be prescribed for extra energy, especially during illness or stress. Regular medical guidance is crucial for proper management.
This group of conditions is caused by pathogenic (disease-causing) variants in the HADHA gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
People who are carriers for HADHA-related disorders usually don’t experience symptoms of the disease. However, if a pregnant person carries a fetus affected by HADHA-related disorder, there’s a higher risk of serious complications, especially in the third trimester. These complications may involve conditions like HELLP syndrome and acute fatty liver of pregnancy. It’s important for pregnant people at risk of such disorders to talk to their doctors. They might also find it helpful to consult with a high-risk physician for specialized advice.