Katia Dolle

Plasma amino acid profile as a biomarker of malate-aspartate shuttle overload in a hepatic glycolytic defect (PFKFB1): a pre/post supplementation case study

Background: it has been proposed that the hepatic glycolytic blockade associated with a hemizygous PFKFB1 variant (p.Ser159Thr) causes cytosolic NADH accumulation, with a secondary increase in demand on the malate-aspartate shuttle (MAS) — the principal mechanism for transferring...