| Disease ID | Source | Name | Description |
| 618120 | OMIM | Mitochondrial complex V deficiency, nuclear type 5 (MC5DN5) | A mitochondrial disorder characterized by childhood onset of episodic metabolic decompensation featuring lactic acidosis and hyperammonemia accompanied by ketoacidosis or hypoglycemia. Chronic manifestations include developmental delay, easy fatiguability, and 3-methylglutaconic aciduria. The transmission pattern of MC5DN5 is consistent with autosomal recessive inheritance. Disease susceptibility is associated with variants affecting the gene represented in this entry. |