/mitochondrial trifunctional protein deficiency

mitochondrial trifunctional protein deficiency

Rare Disease

MONDO:0012172

Also Known As

TFP deficiencyTFPDmitochondrial trifunctional protein deficiencyMTPDmitochondrial trifunctional PROTEIN deficiencytrifunctional Protein deficiencytrifunctional Protein deficiency with myopathy and neuropathy

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..