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
| Autor: | Daniel Zamanfar, Seyed MohammadBagher Hashemi-Soteh, Mobin Ghazaiean, Elham Keyhanian |
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| Rok vydání: | 2023 |
| Předmět: |
Sociology and Political Science
Visual Arts and Performing Arts Polymers and Plastics Literature and Literary Theory Computer Networks and Communications Strategy and Management General Mathematics Library and Information Sciences Industrial and Manufacturing Engineering Education Computer Science Applications Hardware and Architecture Signal Processing Business and International Management Electrical and Electronic Engineering Law Software Information Systems |
| Zdroj: | Journal of Case Reports and Clinical Studies. 1:1-4 |
| DOI: | 10.46439/casereports.1.001 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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