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Case Report


DOI :10.26650/IUITFD.2020.0040   IUP :10.26650/IUITFD.2020.0040    Full Text (PDF)

A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT

Meryem Karaca, Halil Aslan

Glycogen-storage disease type 0A is a rare autosomal recessively inherited disease resulting from a hepatic glycogen synthase enzyme deficiency. Glycogen-storage disease type 0A is characterized by fasting ketotic hypoglycaemia, postprandial hyperglycemia and lactic acidemia without hepatomegaly. In clinical practice, patients may be asymptomatic, or may present with hypoglycemic convulsions, short stature, growth retardation, osteopenia, and rarely symptoms of hyperglycemia. In this article, we present a 6-year-old girl with previous symptoms of hypoglycaemia, and symptoms of hyperglycemia at the time of admission and genetically diagnosed as glycogen storage disease type 0A.

Keywords: Glycogen storage disease type 0A, ketotic hypoglycaemia, hyperglycaemia, lactic acidemia
DOI :10.26650/IUITFD.2020.0040   IUP :10.26650/IUITFD.2020.0040    Full Text (PDF)

HİPO VE HİPERGLİSEMİNİN NADİR BİR NEDENİ; GLİKOJEN DEPO HASTALIĞI TİP 0: OLGU SUNUMU

Meryem Karaca, Halil Aslan

Glikojen depo hastalığı tip 0A; hepatik glikojen sentaz enzim eksikliği sonucu ortaya çıkan otozomal resesif kalıtılan nadir bir hastalıktır. Glikojen depo tip 0A hastalığı hepatomegali olmaksızın açlık ketotik hipoglisemisi, postprandiyal hiperglisemi ve laktik asidemi ile karakterizedir. Klinik pratikte hastalar asemptomatik olabileceği gibi hipoglisemik konvülziyon, boy kısalığı, büyüme geriliği, osteopeni ve seyrek olarak hiperglisemi semptomları ile başvurabilirler. Bu yazıda daha önce hipoglisemi semptomları olan ve başvuru anında hiperglisemi semptomları bulunan postprandiyal laktik asidemi bulguları ile genetik olarak glikojen depo hastalığı tip 0A tanısı konan 6 yaşında kız hasta sunuldu. 

Keywords: Glikojen depo hastalığı tip 0A, ketotik hipoglisemi, hiperglisemi, laktik asidemi

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References

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APA

Karaca, M., & Aslan, H. (2021). A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT. Journal of Istanbul Faculty of Medicine, 84(3), 454-456. https://doi.org/10.26650/IUITFD.2020.0040


AMA

Karaca M, Aslan H. A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT. Journal of Istanbul Faculty of Medicine. 2021;84(3):454-456. https://doi.org/10.26650/IUITFD.2020.0040


ABNT

Karaca, M.; Aslan, H. A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT. Journal of Istanbul Faculty of Medicine, [Publisher Location], v. 84, n. 3, p. 454-456, 2021.


Chicago: Author-Date Style

Karaca, Meryem, and Halil Aslan. 2021. “A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT.” Journal of Istanbul Faculty of Medicine 84, no. 3: 454-456. https://doi.org/10.26650/IUITFD.2020.0040


Chicago: Humanities Style

Karaca, Meryem, and Halil Aslan. “A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT.” Journal of Istanbul Faculty of Medicine 84, no. 3 (Dec. 2024): 454-456. https://doi.org/10.26650/IUITFD.2020.0040


Harvard: Australian Style

Karaca, M & Aslan, H 2021, 'A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT', Journal of Istanbul Faculty of Medicine, vol. 84, no. 3, pp. 454-456, viewed 22 Dec. 2024, https://doi.org/10.26650/IUITFD.2020.0040


Harvard: Author-Date Style

Karaca, M. and Aslan, H. (2021) ‘A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT’, Journal of Istanbul Faculty of Medicine, 84(3), pp. 454-456. https://doi.org/10.26650/IUITFD.2020.0040 (22 Dec. 2024).


MLA

Karaca, Meryem, and Halil Aslan. “A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT.” Journal of Istanbul Faculty of Medicine, vol. 84, no. 3, 2021, pp. 454-456. [Database Container], https://doi.org/10.26650/IUITFD.2020.0040


Vancouver

Karaca M, Aslan H. A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT. Journal of Istanbul Faculty of Medicine [Internet]. 22 Dec. 2024 [cited 22 Dec. 2024];84(3):454-456. Available from: https://doi.org/10.26650/IUITFD.2020.0040 doi: 10.26650/IUITFD.2020.0040


ISNAD

Karaca, Meryem - Aslan, Halil. “A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT”. Journal of Istanbul Faculty of Medicine 84/3 (Dec. 2024): 454-456. https://doi.org/10.26650/IUITFD.2020.0040



TIMELINE


Submitted10.04.2020
Accepted20.05.2020
Published Online04.06.2021

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