| Disease ID | Source | Name | Description |
| 245340 | OMIM | Symptomatic deficiency in lactate transport (SDLT) | Deficiency of lactate transporter may result in an acidic intracellular environment created by muscle activity with consequent degeneration of muscle and release of myoglobin and creatine kinase. This defect might compromise extreme performance in otherwise healthy individuals. The disease is caused by variants affecting the gene represented in this entry. |
| 616095 | OMIM | Monocarboxylate transporter 1 deficiency (MCT1D) | A metabolic disorder characterized by recurrent ketoacidosis, a pathologic state due to ketone formation exceeding ketone utilization. The clinical consequences of ketoacidosis are vomiting, osmotic diuresis, dehydration, and Kussmaul breathing. The condition may progress to decreased consciousness and, ultimately, death. The disease is caused by variants affecting the gene represented in this entry. |
| 610021 | OMIM | Familial hyperinsulinemic hypoglycemia 7 (HHF7) | Dominantly inherited hypoglycemic disorder characterized by inappropriate insulin secretion during anaerobic exercise or on pyruvate load. The disease is caused by variants affecting the gene represented in this entry. |