Mitochondrial Trifunctional Protein Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** A rare, autosomal recessive inherited disorder caused by mutations in the HADHA and HADHB genes. It is characterized by the deficiency of an enzyme involved in the fatty acid oxidation process. Signs and symptoms may appear early or later in life and may be triggered by periods of fasting or illnesses. They include feeding difficulties, lethargy, hypoglycemia, hypotonia, liver abnormalities, heart abnormalities, peripheral neuropathy, coma, and sudden death.