Mitochondrial Trifunctional Protein Deficiency - CISMeF
Mitochondrial Trifunctional Protein DeficiencyNCIt concept
Preferred Label : Mitochondrial Trifunctional Protein Deficiency;
NCIt 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.;