Type of mutation:
Multiple pathogenic variants have been reported so far, including different homozygous missense mutations, different compound heterozygous mutations, frameshift deletions and splice site mutations.
Suspected pathophysiologic mechanism:
MDH2 is an important enzyme in the malate-aspartate shuttle (MAS) and TCA cycle. It performs the reversible oxidation of L-malate to oxaloacetate. The MAS is important in mitochondrial NADH supply for oxidative phosphorylation. However, the pathophysiologic mechanism of this disorder remains unclear and under investigation.
MDH2