MDH1 deficiency is a genetic disorder caused by genetic changes (mutations) in both copies of the MDH1gene, c.413C>T (p.Ala138Val). These changes are each inherited from each parent.
A gene is a piece of code that holds the information for the assembly of proteins. In the case of patients with an MDH1 deficiency, the genetic code of the MDH1gene is changed which will result in a changed MDH1 protein that no longer works correctly.
The MDH1 protein works in the energy metabolism of our cells. Normally, glucose is used by the cell to produce our energy molecules ATP. The MDH1 protein plays an important role in this process by converting malate to oxaloacetate, a downstream product of the breakdown of glucose, which is needed to make energy. However, in people with MDH1 deficiency, this conversion does not work properly making it harder to produce energy from glucose. This can affect the body especially the brain which needs a lot of energy to function well.
Since our full metabolism is complex, it is very hard to determine one precise consequence of a defect MDH1 protein. That is why research is still being performed to fully understand this mechanism.
MDH1