| Disease ID | Source | Name | Description |
| 614462 | OMIM | Hyperglycinemia, lactic acidosis, and seizures (HGCLAS) | An enzymatic defect resulting in an autosomal recessive disorder of mitochondrial metabolism. It is characterized by early-onset lactic acidosis, severe encephalomyopathy, and a pyruvate oxidation defect. Affected individuals have neonatal-onset epilepsy, poor growth, psychomotor retardation, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine. The disease is caused by variants affecting the gene represented in this entry. |