OBO ID: DOID:0111277
Term Name: mitochondrial trifunctional protein deficiency Search Ontology:
  • 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 that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3. (3)
Ontology: Human Disease   ( DOID:0111277 )
OTHER mitochondrial trifunctional protein deficiency PAGES
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HADHA Mitochondrial trifunctional protein deficiency 1 609015
ZEBRAFISH MODELS No data available
PHENOTYPE No data available