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Article

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

BMC pediatrics - 12 May 2022

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

Abstract excerpt

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...

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Identifiers

PMID: 35549678
DOI: 10.1186/s12887-021-03055-7
PMCID: PMC9097106

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