Pediatr Gastroenterol Hepatol Nutr.  2014 Dec;17(4):239-247. 10.5223/pghn.2014.17.4.239.

Does Type I Truly Dominate Hepatic Glycogen Storage Diseases in Korea?: A Single Center Study

• Jeong YJ
• Kang B
• Choi SY
• Ki CS
• Lee SY
• Park HD
• Choe YH

• KMID: 2315498
• DOI: http://doi.org/10.5223/pghn.2014.17.4.239

Abstract

PURPOSE
There are no studies of hepatic glycogen storage diseases (GSDs) other than type I and III in Korea. We aimed on investigating the characteristics of hepatic GSDs in Korea diagnosed and followed at a single center.
METHODS
We retrospectively analyzed patients who were diagnosed as GSD and followed at Samsung Medical Center from January, 1997 to December, 2013. Clinical manifestations, laboratory results, treatment, and prognosis were investigated.
RESULTS
Twenty-one patients were included in the study. The types of 17 patients were confirmed by enzyme activity tests and/or gene analysis. GSD Ia was diagnosed in 7 patients (33.3%), Ib in 1 patient (4.8%), III in 2 patients (9.5%), IV in 1 patient (4.8%), and IX in 6 patients (28.6%). Types other than GSD I constituted 52.9% (9/17) of the patients diagnosed with a specific type of hepatic GSD. The median age at presentation was 2 years. Hepatomegaly was observed in 95.2%, elevated liver transaminases in 90.5%, and hyperlactacidemia in 81.0% of the patients. The duration for follow-up was 77+/-62.0 months. Uncooked corn starch was initiated in all the patients. No mortality was observed during the follow-up period, and liver transplantation was performed in 14.3%.
CONCLUSION
Types other than GSD I comprised more than half of the patients diagnosed with a specific type of hepatic GSD. Clinical suspicion and thorough evaluation of hepatic GSDs in Korea should be focused not only on GSD I, but also on other types.

Keyword

Glycogen storage disease; Liver; Korea

MeSH Terms

Follow-Up Studies
Glycogen Storage Disease
Hepatomegaly
Humans
Korea
Liver
Liver Glycogen*
Liver Transplantation
Mortality
Prognosis
Retrospective Studies
Starch
Transaminases
Zea mays
Liver Glycogen
Starch
Transaminases

Figure

• 

  Fig. 1 Clinicolaboratory findings of hepatic glycogen strorage diseases at presentation and at recent follow up. GSD: glycogen storage disease; AST/ALT: aspartate aminotransferase/alanine aminotransferase; ND: not determined.

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