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There is still no established treatment. However, for the D,L-2HGA type (combined type) some researches had used either malate or citrate. During malate treatment, urinary malate concentration increased, but beyond that, no effects were observed. In contrast, treatment with citrate led to some good results, but more studies are needed to confirm the effectiveness of this treatment.
Last updated: 7/22/2015
- Mühlhausen C, Salomons GS, Lukacs Z, Struys EA, van der Knaap MS, Ullrich K & Santer R. Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment. J Inherit Metab Dis. September, 2014; 37(5):775-81. http://www.ncbi.nlm.nih.gov/pubmed/24687295. Accessed 7/22/2015.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.