mitochondrial trifunctional protein deficiency

A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from several neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver dise

A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from several neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.

Also known as: MTPD; TFP deficiency; TFPD