DO_rare_slim NCIthesaurus has material basis in has phenotype disease has feature cardiomyopathy autosomal recessive disease metabolic acidosis mitochondrial trifunctional protein deficiency UMLS_CUI:C1969443 DOID:0111277 MIM:PS609015 NCI:C98991 MESH:C566945 ORDO:746 disease_ontology SNOMEDCT_US_2025_09_01:237999008 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. GARD:3684 MTPD TFP deficiency TFPD lipid metabolism disorder liver disease myopathy neuropathy hypoglycemia autosomal recessive inheritance Pigmentary retinopathy