caa a22 4500 46793276X CHVBK 20180406152948.0 cr unu---uuuuu 170328e20060201xx s 000 0 eng 10.1007/s10545-006-0317-9 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0317-9 Struys Eduard VU University Medical Centre, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands aut D -2-Hydroxyglutaric aciduria: Unravelling the biochemical pathway and the genetic defect [Elektronische Daten] [Eduard Struys] Summary: D-2-Hydroxyglutaric aciduria (D-2-HGA) is a neurometabolic inherited disorder first described in 1980. In the following years, it became clear that the clinical phenotype of the disease varies widely from severe neonatal to asymptomatic. However, the sparse biochemical knowledge made D-2-HGA a poorly understood disease. Much progress has been made in the last five years in various studies, revealing two human enzymes that play a role in the metabolism of D-2-hydroxyglutarate (D-2-HG): hydroxyacid-oxoacid transhydrogenase (HOT) and D-2-HG dehydrogenase. HOT is expected to be responsible for the formation of D-2-HG, while D-2-HG dehydrogenase converts D-2-HG into 2-ketoglutarate. We demonstrated pathogenic mutations in the D2HGD gene in patients with D-2-HGA, helping to unravel the primary defect causing D-2-HGA. However, in approximately 50% of the patients with D-2-HGA examined, no pathogenic mutations have yet been found. SSIEM and Springer, 2006 Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 21-29 0141-8955 29:1<21 2006 29 10545 https://doi.org/10.1007/s10545-006-0317-9 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0317-9 text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- Struys Eduard VU University Medical Centre, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 21-29 0141-8955 29:1<21 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer