A novel PHKA2 variant in a Chinese boy with glycogen storage diseases type IXa

ConclusionWe describe a previously unreported case of a GSDs IXa type Chinese boy caused by a novel PHKA2 variant. This clinical case contributes to the understanding of the characteristics of GSDs type IXa and expands the variants spectrum of genes related to GSDs type IXa. Our findings demonstrated the significance of genetic testing in the diagnosis of GSDs.
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research