Case Report: Glycogen Storage Disease Type Ia in a Chinese Child Treated With Growth Hormone.

Shimin Wu,Shusen Guo,Lina Fu,Caiqi Du,Xiaoping Luo

Frontiers in pediatrics（2022）

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摘要

We describe a young patient with a compound heterozygous G6PC variant in a Chinese family; his height increased significantly after growth hormone and corn starch interventions. This case emphasizes that WES is essential for early diagnosis, and that growth hormone treatment may increase the height of patients with GSD Ia safely.

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关键词

G6PC gene,GSD Ia,compound heterozygous variant,growth hormone treatment,growth retardation

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