This website provides information on patients with mutations in the MDH2 gene, including clinical data, molecular data, management and research options.

MDH2 deficiency is a syndrome caused by recessive mutations in the MDH2 gene. It is a multisystem disorder. Symptoms include epileptic encephalopathy, global developmental delay, failure to thrive, hypotonia and structural brain abnormalities

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the MDH2 gene.

Judith Jans, PhD, University Medical Center Utrecht, Utrecht, The Netherlands, j.j.m.jans@umcutrecht.nl