Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Dec 8;8(1):45.
doi: 10.1038/s41439-021-00172-8.

A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review

Jun Kido  1   2 , Hiroshi Mitsubuchi  3   4 , Takehisa Watanabe  5 , Keishin Sugawara  6 , Hideo Sasai  7 , Toshiyuki Fukao  7 , Kimitoshi Nakamura  3   6
Affiliations

A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review

Jun Kido et al. Hum Genome Var. .

Abstract

Glycogen storage disease type IX (GSD IX), the most common form of GSD, is caused by a defect in phosphorylase kinase (PhK). We describe the case of a female patient with GSD IXc harboring a homozygous mutation in PHKG2 (NM_000294.3; PHKG2 (c.280_282delATC (p. I94del)) definitively diagnosed using the GSD gene panel. She presented with hypoglycemia, hepatomegaly, and short stature and died of cirrhosis and recurrent multiple hepatocellular adenoma at the age of 69 years and 11 months.

PubMed Disclaimer

Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1. Hepatocellular carcinoma (HCC) in a female patient with GSD IXc.
A Clinical course. Deterioration of cirrhosis and HCC progressed with age. B Liver MRI. T2-weighted imaging detected a 2-cm tumor in the liver (S7 section). C–F Pathological tissues. The S7 tumor exhibited characteristics of well-differentiated (C) and moderately differentiated (D) HCC combined with hepatocytes with a clear cell cytoplasm (E), consistent with pathology in GSD. The S4 tumor was poorly differentiated (F) and moderately differentiated HCC. G Liver CT. Multiple HCC and ascites were detected in the abdomen.
See this image and copyright information in PMC

References

    1. Maichele AJ, Burwinkel B, Maire I, Søvik O, Kilimann MW. Mutations in the testis/liver isoform of the phosphorylase kinase γ subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. Nat. Genet. 1996;14:337–340. doi: 10.1038/ng1196-337. - DOI - PubMed
    1. Brushia RJ. Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure. Front. Biosci. 1999;4:d618. doi: 10.2741/Brushia. - DOI - PubMed
    1. Newgard CB, Hwang PK, Fletterick RJ. The family of glycogen phosphorylases: structure and function. Crit. Rev. Biochem. Mol. Biol. 1989;24:69–99. doi: 10.3109/10409238909082552. - DOI - PubMed
    1. Burwinkel B, Tanner MS, Kilimann MW. Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) J. Med. Genet. 2000;37:376–7. doi: 10.1136/jmg.37.5.376. - DOI - PMC - PubMed
    1. Morava E, et al. Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency. J. Inherit. Metab. Dis. 2005;28:703–706. doi: 10.1007/s10545-005-0095-9. - DOI - PubMed