| Metadata | |
|---|---|
| ID | DOID:0111277 |
| Name | mitochondrial trifunctional protein deficiency |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/12754706, https://www.ncbi.nlm.nih.gov/pubmed/12838198, https://www.ncbi.nlm.nih.gov/pubmed/7738175 |
| Xrefs |
SNOMEDCT_US_2023_03_01:237999008 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
MTPD [EXACT] TFP deficiency [EXACT] TFPD [EXACT] |
| Parent Relationships |