General information: MDH2 deficiency is a metabolic defect in the malate–aspartate shuttle and TCA cycle characterized by a severe neurodevelopmental phenotype with increased serum lactate.
Clinical features: Patients reported presented with a variety of symptoms including epileptic encephalopathy, global developmental delays, failure to thrive, hypotonia, structural brain abnormalities and visual impairments.
Inheritance: MDH2 deficiency is inherited in a autosomal recessive manner.
Prevalence: The prevalence of MDH2 deficiency is not known.
Molecular Characteristics: A defect in MDH2is caused by variety of mutations including homozygous missense mutations, compound heterozygous mutations, frameshift deletions and splice site mutations.
Management: Treatment is symptomatic and multidisciplinary.
MDH2