Disorders of carbohydrate metabolism: a review of glycogen storage disorders. Issue 3 (March 2023)

• Record Type: Journal Article
• Authors: Yeo, Mildrid; Moawad, Hager; Grunewald, Stephanie
• Is Part Of: Paediatrics and child health. Volume 33:Issue 3(2023)
• Page Start: 65
• Page End: 72
• Publication Date: 2023-03
• Subjects: cardiomyopathy -- glycogen -- glycogenesis -- glycogenolysis -- glycolysis -- GSD -- hepatomegaly -- hypoglycaemia -- liver -- muscle; Pediatrics -- Periodicals; Pediatrics -- Periodicals; Pédiatrie -- Périodiques; 618.920005
• DOI: 10.1016/j.paed.2022.12.007
• Languages: English
• ISSNs: 1751-7222

Abstract

Abstract: Glycogen storage disorders (GSDs) are inherited metabolic disorders of carbohydrate metabolism specifically glycogen metabolism. There are currently 16 recognised GSD types with an overall incidence of between 1 in 20, 000 and 1 in 43, 000 live births. GSD IX is the most common GSD type. The majority of GSDs are inherited in an autosomal recessive manner but can also be inherited in an X-linked manner. It can be a misconception to assume that GSDs only affect the liver. In fact, GSDs can also affect skeletal muscle, the heart and sometimes the central nervous system and kidneys. In this article, we will review the different GSDs and their manifestations, their metabolic derangements, and treatment strategies.