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..
MONDO:0012173
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
excluded_subClassOf
MONDO:0002525
inherited lipid metabolism disorder
is_a
MONDO:0009637
inborn mitochondrial myopathy
is_a
MTPD
related
TFP deficiency
exact
TFPD
exact
mitochondrial trifunctional protein deficiency
exact