fatal multiple mitochondrial dysfunctions syndrome https://www.malacards.org/card/multiple_mitochondrial_dysfunctions_syndrome OMIMPS:605711 SCTID:720827002 MMDS MESH:C565304 MEDGEN:502474 DOID:0070330 Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual. UMLS:C3502075 Orphanet:289573 multiple mitochondrial dysfunctions syndrome fatal multiple mitochondrial dysfunction syndrome GARD:0012632 MONDO:0017338 inherited lipoic acid biosynthesis defect