Clinical and genetic characteristics of three Chinese patients with glycogen storage disease type Ⅸα

Glycogen storage disease (GSD) Ⅸ is caused by a deficiency of phosphorylase kinase (PHK, EC.2.7.1.38), which plays a critical role in regulating the release of glucose from glycogen, resulting in the storage of glycogen.1 PHK is composed of four subunits, namely, α, β, γ and δ. Each of the subunits is tissue-specific and en coded by different genes. Subunit α has two isoforms, GSD Ⅸα1 and Ⅸα2 (MIM #306000), both of which are encoded by the PHKA2 gene (MIM *300798), these isoforms are involved in liver glycogenosis.

Source: Pediatrics and Neonatology - June 23, 2019 Category: Perinatology & Neonatology Authors: Fengxia Yang, Yi Xu, Chunxiao Fang, Limei Tan, Qianqian Tan, Yong Zhou Tags: Short Communication Source Type: research