| Disease ID | Source | Name | Description |
| 616299 | OMIM | Lipoyltransferase 1 deficiency (LIPT1D) | A disorder due to a defect in lipoic acid metabolism, resulting in severe lactic acidosis and metabolic decompensation. Variable clinical manifestations include delayed psychomotor development, severe hypotonia, dystonia, loss of head control, coma, bradycardia, and pulmonary hypertension. The disease is caused by variants affecting the gene represented in this entry. |