| 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. https://www.ncbi.nlm.nih.gov/pubmed/12838198, https://www.ncbi.nlm.nih.gov/pubmed/12754706, 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 | |
| Subclass Logical Relationships |
disease has feature some cardiomyopathy disease has feature some liver disease disease has feature some metabolic acidosis has phenotype some Pigmentary retinopathy has material basis in some autosomal recessive inheritance disease has feature some neuropathy disease has feature some hypoglycemia disease has feature some myopathy |