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BMC Pediatrics

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Open Access 01-12-2022 | Acidosis | Case report

A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants

Authors: Yongxian Shao, Taolin Li, Minyan Jiang, Jianan Xu, Yonglan Huang, Xiuzhen Li, Ruidan Zheng, Li Liu

Published in: BMC Pediatrics | Issue 1/2022

Abstract

Background

Pathogenic mutations in the PHKG2 are associated with a very rare disease—glycogen storage disease IXc (GSD-IXc)—and are characterized by severe liver disease.

Case presentation

Here, we report a patient with jaundice, hypoglycaemia, growth retardation, progressive increase in liver transaminase and prominent hepatomegaly from the neonatal period. Genetic testing revealed two novel, previously unreported PHKG2 mutations (F233S and R320DfsX5). Functional experiments indicated that both F223S and R320DfsX5 lead to a decrease in key phosphorylase b kinase enzyme activity. With raw cornstarch therapy, hypoglycaemia and lactic acidosis were ameliorated and serum aminotransferases decreased.

Conclusion

These findings expand the gene spectrum and contribute to the interpretation of clinical presentations of these two novel PHKG2 mutations.

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Title: A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants
Authors: Yongxian Shao
Taolin Li
Minyan Jiang
Jianan Xu
Yonglan Huang
Xiuzhen Li
Ruidan Zheng
Li Liu
Publication date: 01-12-2022
Publisher: BioMed Central
Keywords: Acidosis
Hypoglycemia
Published in: BMC Pediatrics / Issue 1/2022
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/s12887-021-03055-7

Keynote webinar | Spotlight on medication adherence

Springer Medicine

A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants

Abstract

Background

Case presentation

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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