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Article

The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.

BMC pediatrics - 16 May 2022

Wang Jing, Yu Yuping, Cai Chunquan, Zhi Xiufang, Zhang Ying, Zhao Yu, Shu Jianbo

Abstract excerpt

BACKGROUND: Glycogen storage disease type III (GSD III) is a rare autosomal recessive glycogenolysis disorder due to AGL gene variants, characterized by hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated hepatic transaminases, growth retardation, progressive myopathy, and cardiomyopathy. However, it is not easy to make a definite diagnosis in early stage of disease only based on the clinical phenotype...

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PMID: 35578201
DOI: 10.1186/s12887-022-03252-y
PMCID: PMC9109368

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