Triheptanoin Use for Severe Neonatal Cardiomyopathy Secondary to Mitochondrial Trifunctional Protein Deficiency- A First Report

Introduction: Mitochondrial trifunctional protein deficiencies (MTFPD) are rare and lead to incomplete oxidation of fatty acids, causing an energy deficit affecting the heart, skeletal muscle, brain, and liver, as well as accumulation of potentially toxic fatty acid intermediates. The clinical manifestations include rhabdomyolysis, hypoglycemia, and in severe cases cardiomyopathy. Treatment of these disorders is limited and include avoidance of fasting, implementation of high carbohydrate and low long chain fatty acid diets and supplementation with medium chain fatty acids (MCFA).
Source: The Journal of Heart and Lung Transplantation - Category: Transplant Surgery Authors: Source Type: research