Introduction
MDH1 deficiency is a metabolic defect in the malate–aspartate shuttle characterized by a severe neurodevelopmental phenotype with elevated concentrations of glycerol-3-phosphate in dried blood spots.
Clinical features
The two patients reported, presented with severe developmental delay, epileptic encephalopathy, progressive microcephaly and facial dysmorphism.
Inheritance
Missense mutation in MDH1is inherited in a autosomal recessive manner. If both parents are heterozygous for the variant, the risk to the offspring for inheriting is 25%.
Prevalence
The prevalence of MDH1 deficiency is not known. However, only two affected individuals are reported in literature.
Molecular Characteristics
A defect in MDH1 is caused by a homozygous mutation of the MDH1gene. So far only the missense mutation c.413C>T (p.Ala138Val) is known.
Management
Treatment is symptomatic and multidisciplinary.
MDH1