Type I glycogen storage disease

Monitoring of GSD I involves periodic assessment of growth, physical development, and metabolic parameters. These include monitoring of electrolytes, lactic acid, lipids, uric acid, aminotransferases, renal function, vitamin D levels, thyroid function, and CBCs. Families are instructed to monitor blood glucose frequently to maintain euglycemia. Continuous glucose monitoring systems have great potential for real-time assessment of glycemic variation in patients with hepatic GSD, and are increasingly being used by patients.[50]Peeks F, Hoogeveen IJ, Feldbrugge RL, et al. A retrospective in-depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: recommended outcome parameters for glucose management. J Inherit Metab Dis. 2021 Sep;44(5):1136-50. https://onlinelibrary.wiley.com/doi/10.1002/jimd.12383 http://www.ncbi.nlm.nih.gov/pubmed/33834518?tool=bestpractice.com [51]Rossi A, Venema A, Haarsma P, et al. A prospective study on continuous glucose monitoring in glycogen storage disease type Ia: toward glycemic targets. J Clin Endocrinol Metab. 2022 Aug 18;107(9):e3612-23. https://academic.oup.com/jcem/article/107/9/e3612/6628700?login=false http://www.ncbi.nlm.nih.gov/pubmed/35786777?tool=bestpractice.com ​​ Hepatic ultrasound should be obtained annually starting at age 5 years with more frequent studies obtained if lesions are numerous or enlarging.