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DOID:0111277 - mitochondrial trifunctional protein deficiency
Disease Ontology 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.
Synonyms: MTPD, TFPD, TFP deficiency
Xenbase Genes
:
hadha,
hadhb
| MIM:609015 - MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 1; MTPD1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee