| Disease ID | Source | Name | Description |
| 609015 | OMIM | Mitochondrial trifunctional protein deficiency (MTPD) | A disease biochemically characterized by loss of all enzyme activities of the mitochondrial trifunctional protein complex. Variable clinical manifestations include hypoglycemia, cardiomyopathy, delayed psychomotor development, sensorimotor axonopathy, generalized weakness, hepatic dysfunction, respiratory failure. Sudden infant death may occur. Most patients die from heart failure. The disease is caused by variants affecting the gene represented in this entry. |