Thelansis

  Fatty Acid Oxidation Disorders (FAODs) are a group of inherited metabolic conditions that result in an accumulation of fatty acids and a decrease in cell energy metabolism. Each fatty acid oxidation disorder is caused by a specific enzyme defect in the fatty acid metabolic pathway and has an impact on dietary and stored fat utilization. The presentation of a FAOD varies depending on the disorder, but common elements may be observed and ultimately require similar treatment. Initial presentations of the FAODs in the neonatal period with severe symptoms include cardiomyopathy, while liver dysfunction and hypoketotic hypoglycemia are common during infancy and childhood. Fatty Acid Oxidation Disorders (FAODs) are all inherited in an autosomal recessive manner. Patients will have inherited two copies of a FAOD with a mutation or variant in the DNA sequence. Each pregnancy will have a one-in-four chance of a child being affected, a one-in-two chance of being an unaffected carrier, and...