The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type IIIA Caused by Rare Variant

Puente-Ruiz, N, Palaniappan, S, Woodall, A, Cooper, R ORCID: 0000-0001-7482-828X, Terry, A, Oldham, A, Rousseau, A, Campbell, C, Vasudevan, P and Stepien, KM ORCID: 0000-0003-0148-6332 (2025) The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type IIIA Caused by Rare Variant. Jimd Reports, 66 (4). ISSN 2192-8304

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Abstract

Glycogen storage disease type III (GSD III) is an inborn error of carbohydrate metabolism with an autosomal recessive inheritance pattern. Phenotypically, patients can manifest a broad clinical spectrum. Most patients affected with GSD IIIA (85%) have a non-functional GDE enzyme primarily affecting the liver and cardiac/skeletal muscle (Type IIIA). Initial clinical manifestations of GSD IIIA present in the first year of life. Presentation is very similar to GSD type I. Up to 98% of children affected have hepatomegaly, hypoglycaemia (53%) with marked ketosis (34%), short stature (49%), delayed puberty, and frequent infections (17%). In adulthood, they may have cirrhosis, adenomas, or hepatocarcinomas (11%), cardiomyopathy (58%) and myopathy (34%). Pregnancy has been documented in women with GSD III. Nutritional requirements are increased during pregnancy, especially in the third trimester. We report the management of a woman with GSD IIIA found to be compound heterozygous for two pathogenic AGL variants, c.798C>G p.(Tyr266Ter) and c.4258_4259ins? p.(Asp1420fs), who had a planned pregnancy. Cardiac outcomes are also described/discussed.

Item Type:	Article
Uncontrolled Keywords:	cardiac MR; cardiomyopathy; genomic rearrangement; glycogen storage disease type IIIA; pregnancy; 3215 Reproductive Medicine; 32 Biomedical and Clinical Sciences; Rare Diseases; Liver Disease; Pediatric; Digestive Diseases; Clinical Research; 2.1 Biological and endogenous factors; 3202 Clinical sciences
Subjects:	R Medicine > RC Internal medicine > RC1200 Sports Medicine
Divisions:	Sport and Exercise Sciences
Publisher:	Wiley
Date of acceptance:	11 June 2025
Date of first compliant Open Access:	29 August 2025
Date Deposited:	29 Aug 2025 10:32
Last Modified:	29 Aug 2025 10:45
DOI or ID number:	10.1002/jmd2.70030
URI:	https://researchonline.ljmu.ac.uk/id/eprint/27019

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