| Disease ID | Source | Name | Description |
| 605711 | OMIM | Multiple mitochondrial dysfunctions syndrome 1 (MMDS1) | A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes. The disease is caused by variants affecting the gene represented in this entry. |