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Tytuł:
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A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants.
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Autorzy:
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Shao Y; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Li T; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Jiang M; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Xu J; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Huang Y; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Li X; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Zheng R; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Liu L; Department of Pediatric Endocrinology and Genetic Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China. .
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Źródło:
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BMC pediatrics [BMC Pediatr] 2022 May 12; Vol. 22 (1), pp. 267. Date of Electronic Publication: 2022 May 12.
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Typ publikacji:
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Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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Język:
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English
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Imprint Name(s):
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Original Publication: London : BioMed Central, [2001-
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MeSH Terms:
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Glycogen Storage Disease*/diagnosis
Glycogen Storage Disease*/genetics
Glycogen Storage Disease*/pathology
Hypoglycemia*
Humans ; Infant, Newborn ; Liver/pathology ; Mutation ; Phosphorylase Kinase/genetics
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References:
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Contributed Indexing:
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Keywords: Case report; Glycogen storage disease; PHKG2; Phosphorylase b kinase
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Substance Nomenclature:
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EC 2.7.1.19 (Phosphorylase Kinase)
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SCR Disease Name:
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Glycogen Storage Disease IXC
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Entry Date(s):
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Date Created: 20220513 Date Completed: 20220517 Latest Revision: 20220716
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Update Code:
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20240105
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PubMed Central ID:
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PMC9097106
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DOI:
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10.1186/s12887-021-03055-7
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PMID:
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35549678
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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.
(© 2022. The Author(s).)
