OBO ID: DOID:0111277
Term Name: mitochondrial trifunctional protein deficiency Search Ontology:
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 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)
References:
Ontology: Human Disease   (DOID:0111277)
OTHER mitochondrial trifunctional protein deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HADHA Mitochondrial trifunctional protein deficiency 609015
HADHB Trifunctional protein deficiency 609015
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None