Mitochondrial trifunctional protein deficiency

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: TFP deficiency, TFPD, mitochondrial trifunctional protein deficiency, MTPD, mitochondrial trifunctional PROTEIN deficiency, trifunctional Protein deficiency, trifunctional Protein deficiency with myopathy and neuropathy

91 clinical trials for this condition and its sub-types.