There are no treatments for MDDS, but some of the symptoms can be managed. For survivors living with MDDS, there are drugs to control epilepsy, and physical therapy can help with muscle control. Liver transplants may benefit people with liver involvement.
Mitochondrial DNA depletion syndrome
Mitochondrial disease
Glutaminase deficiency
Pyruvate kinase deficiency
Pyruvate dehydrogenase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Contiguous gene syndrome