| Disease ID | Source | Name | Description |
| 261650 | OMIM | Mitochondrial phosphoenolpyruvate carboxykinase deficiency (M-PEPCKD) | Metabolic disorder resulting from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycemia. Autopsy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait. The disease is caused by variants affecting the gene represented in this entry. |