MDH1 deficiency is a metabolic disorder of the malate –aspartate shuttle associated with early onset severe encephalopathy

In conclusion, MDH1 deficiency is a new metabolic defect in the malate –aspartate shuttle characterized by a severe neurodevelopmental phenotype with elevated concentrations of glycerol-3-phosphate as a potential biomarker.
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research