Multiple Mitochondrial Dysfunctions Syndrome 3 (MMDS3)

Multiple Mitochondrial Dysfunctions Syndrome 3, also known as mmds3, is related to pyruvate dehydrogenase e1-alpha deficiency and isolated complex i deficiency. An important gene associated with Multiple Mitochondrial Dysfunctions Syndrome 3 is IBA57 (Iron-Sulfur Cluster Assembly Factor IBA57), and among its related pathways/superpathways are Metabolism and Complex I biogenesis. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are seizure and hypotonia