This website provides information on patients with variants in the GLYCTK gene, including clinical data, molecular data, management and research options.
So far, only 18 individuals with a diagnosis of D-glyceric aciduria have been reported, and only eight of them with a documented homozygous variant in the GLYCTKgene that encodes for D-glycerate kinase.
Patients present with a wide range of clinical phenotypes, but asymptomatic cases have also been described. Given the highly variable clinical outcomes it has been suggested that D-glycerate kinase deficiency may be a mere biochemical variant rather than a disease.
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 variants in the GLYCTKgene.
Professor Dr. rer. nat. Jörn Oliver Sass, Bonn-Rhein-Sieg University of Applied Sciences, Rheinbach, Germany, joern.oliver.sass@h-brs.de