Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I - A link to metabolic control
Thorsten Hornemann, Irina Alecu, Niels Hagenbuch, Assem Zhakupova, Alessio Cremonesi, Matthias Gautschi, Hans H Jung, Fabian Meienberg, Stefan Bilz, Emanuel Christ, Matthias R Baumgartner & Michel Hochuli
In addition to the known abnormalities of lipoproteins, GSDI patients also have a disturbed sphingolipid metabolism with elevated plasma 1-deoxySL concentrations. 1-DeoxySA relates to the occurrence of low blood glucose, and may constitute a potential new biomarker for assessing metabolic control. GSDIa and Ib have distinct 1-deoxySL profiles indicating that both GSD subtypes have diverse phenotypes regarding lipid metabolism.
|citation||Hornemann T, Alecu I, Hagenbuch N, Zhakupova A, Cremonesi A, Gautschi M, Jung H H, Meienberg F, Bilz S, Christ E, Baumgartner M R, Hochuli M. Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I - A link to metabolic control. Mol Genet Metab 2018; 125:73-78.|
|type||journal paper/review (English)|
|date of publishing||20-07-2018|
|journal title||Mol Genet Metab (125/1-2)|