Families

What is MDH1 deficiency?
MDH1 deficiency is a metabolic defect caused by a change in the MDH1gene. Patients present with severe developmental delay, epileptic encephalopathy, progressive microcephaly and facial similarities among the affected individuals.

How many people are affected?
MDH1 deficiency is a rare disease. So far, only two patients have been diagnosed worldwide.

What causes MDH1 deficiency?
MDH1 deficiency is a genetic disorder caused by genetic changes (mutations) in both copies of the MDH1gene. These changes are each inherited from each parent.

How to diagnose MDH1 deficiency?
Genetic testing can lead to a diagnosis.