Mitochondrial trifunctional protein deficiency
Mitochondrial trifunctional protein deficiency
Definition
Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..
Also known as mitochondrial trifunctional protein deficiency, TFP deficiency, TFPD — per MONDO