biostudies-literatureConte FPrinses Beatrix SpierfondsDutch Research Council (NWO)Stichting StofwisselkrachtUMD8247https://www.ebi.ac.uk/biostudies/studies/S-EPMC10179458biostudies-literatureUnknown24(9)Phosphoglucomutase 1 (PGM1) is a key enzyme for the regulation of energy metabolism from glycogen and glycolysis, as it catalyzes the interconversion of glucose 1-phosphate and glucose 6-phosphate. PGM1 deficiency is an autosomal recessive disorder characterized by a highly heterogenous clinical spectrum, including hypoglycemia, cleft palate, liver dysfunction, growth delay, exercise intolerance, and dilated cardiomyopathy. Abnormal protein glycosylation has been observed in this disease. Oral supplementation with D-galactose efficiently restores protein glycosylation by replenishing the lacking pool of UDP-galactose, and rescues some symptoms, such as hypoglycemia, hepatopathy, and growth delay. However, D-galactose effects on skeletal muscle and heart symptoms remain unclear. In this stuInternational journal of molecular sciencesIn Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.PMC10179458Catalyst grant UMD-CG-2020-006Grant W.OR17-15VIDI Grant 91713359Grant no. 2019-2766-001Huijben KNoga MJMijdam RPanneman DMRodenburg RJTPost MAAshikov AVoermans NCConte Fvan Scherpenzeel MLefeber DJVeizaj RMahalleh-Yousefi SPKoopman WJHWessels HJCTvan de Ven EGPGaranto AfalseIn Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.Phosphoglucomutase 1 (PGM1) is a key enzyme for the regulation of energy metabolism from glycogen and glycolysis, as it catalyzes the interconversion of glucose 1-phosphate and glucose 6-phosphate. PGM1 deficiency is an autosomal recessive disorder characterized by a highly heterogenous clinical spectrum, including hypoglycemia, cleft palate, liver dysfunction, growth delay, exercise intolerance, and dilated cardiomyopathy. Abnormal protein glycosylation has been observed in this disease. Oral supplementation with D-galactose efficiently restores protein glycosylation by replenishing the lacking pool of UDP-galactose, and rescues some symptoms, such as hypoglycemia, hepatopathy, and growth delay. However, D-galactose effects on skeletal muscle and heart symptoms remain unclear. In this stu2023-01-01T00:00:00Z2023 May2026-05-10T03:08:26.556Z2025-04-05T21:09:24.547ZS-EPMC101794583717595210.3390/ijms24098247