| 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. |
| 609016 | OMIM | Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) | The clinical features are very similar to TFP deficiency. Biochemically, LCHAD deficiency is characterized by reduced long-chain 3-hydroxyl-CoA dehydrogenase activity, while the other enzyme activities of the TFP complex are normal or only slightly reduced. The disease is caused by variants affecting the gene represented in this entry. |
| 609016 | OMIM | Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) | The clinical features are very similar to TFP deficiency. Biochemically, LCHAD deficiency is characterized by reduced long-chain 3-hydroxyl-CoA dehydrogenase activity, while the other enzyme activities of the TFP complex are normal or only slightly reduced. The disease is caused by variants affecting the gene represented in this entry. |