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Journal of Case Reports and Clinical Studies

Case Report Open Access
Volume 1 | Issue 1 | DOI: https://doi.org/10.46439/casereports.1.001

Report of an Iranian child with developmental motor delay and renal and hepatic complications diagnosed as a Glycogen storage disease type 1a: A case report

Daniel Zamanfar1,*, Seyed MohammadBagher Hashemi-Soteh2, Mobin Ghazaiean3, Elham Keyhanian4
  • 1Associate Professor, Pediatric Endocrinologist, Diabetes Research Center of Mazandaran, Mazandaran University of Medical Sciences, Sari, Iran
  • 2Immunogenetic Research center, molecular and cell biology research center, faculty of medicine, Mazandaran university of medical sciences, Sari, Iran
  • 3Medical Student, Student Research Committee, Mazandaran University of Medical Sciences, Sari, Iran
  • 4Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Science, Tehran, Iran
+ Affiliations - Affiliations

Corresponding Author

Daniel Zamanfar, danielzamanfar@ymail.com

Received Date: October 18, 2022

Accepted Date: December 20, 2022

Citation:

Zamanfar D, Hashemi-Soteh SM, Ghazaiean M, KeyhanianE. Report of an Iranian child with developmental motor delay and renaland hepatic complications diagnosedas a Glycogen storage disease type1a: A case report. J Case Rep Clin Stud.2023;1(1):1-4.


Copyright: © 2023 Zamanfar D, etal. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Background: Glycogen storage disease type 1a (GSD-1a) is the most common form of GSDs, accounting for 80% of these cases. Here we present a 16-month-old boy being treated for GSD-1a at our clinic. 

Case presentation: Given that the patient was not examined and diagnosed prior to referral to our clinic, mitochondrial disease due to developmental delay, high lactate levels, and lack of hypoglycemia was treated first. Given the fact that the patient’s clinical presentation could not be justified by repeat testing, DNA analysis showed evidence in favor of glucose-6-phosphatase deficiency. The result of the genetic analysis reported a known mutation of c.G193C (P.A65P). 

Conclusion: Because of the prevalence of this disease, GSD-1a should be considered in children with unexplained hypoglycemia and/or hepatomegaly. Proper metabolic control and prohibition of hypoglycemia should aim to reach the desired point.

Keywords

Glycogen storage diseases, Hepatomegaly, Glucose-6-phosphatase, Autosomal recessive, Metabolic disease, GSD-1a

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