Families

What is MDH2 deficiency?
MDH2 deficiency is a metabolic defect caused by a change in the MDH2gene. Patients presented with severe developmental delay, epileptic encephalopathy and visual impairments.

How many people are affected?
MDH2 deficiency is a rare disease. To date, only twelve patients have been reported.

What causes MDH2 deficiency?
MDH2 deficiency is a genetic disorder caused by a genetic change (mutation) in both copies of the MDH2gene. These changes are each inherited from each parent.

How to diagnose MDH2 deficiency?
Genetic testing can lead to a diagnosis.