| Disease ID | Source | Name | Description |
| 307030 | OMIM | Glycerol kinase deficiency (GKD) | A metabolic disorder manifesting as 3 clinically distinct forms: infantile, juvenile, and adult. The infantile form is the most severe and is associated with severe developmental delay and adrenal insufficiency. Patients with the adult form have no symptoms and are often detected fortuitously. GKD results in hyperglycerolemia, a condition characterized by the accumulation of glycerol in the blood and urine. The disease is caused by variants affecting the gene represented in this entry. |