Search Ontology:
Human Disease
mitochondrial trifunctional protein deficiency
- Term ID
- DOID:0111277
- Synonyms
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- 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
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- GARD:3684
- MESH:C566945
- NCI:C98991
- OMIM:609015
- ORDO:746
- SNOMEDCT_US_2023_03_01:237999008
- UMLS_CUI:C1969443
- Ontology
- Human Disease ( DOID:0111277 )
- is a type of
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