Term Name: mitochondrial trifunctional protein deficiency
Synonyms: MTPD, TFP deficiency, TFPD
Definition: A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere 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.
Ontology: Human Disease [DOID:0111277]   ( DOID:0111277 )

Relationships
is a type of: autosomal recessive disease lipid metabolism disorder
has subtype: mitochondrial trifunctional protein deficiency 1 mitochondrial trifunctional protein deficiency 2