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Volume 12, Issue 4 (10-2024)
J. Pediatr. Rev 2024, 12(4): 369-376 |
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Noorian S, Moravej H, Afshar Z, Hassanzadeh Rad A, Dalili S. Glycogen Storage Disease Type IX in a 6-year-old Male: A Case Report. J. Pediatr. Rev 2024; 12 (4) :369-376
URL: http://jpr.mazums.ac.ir/article-1-676-en.html
URL: http://jpr.mazums.ac.ir/article-1-676-en.html
1- Department of Pediatrics, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran.
2- Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
3- Department of Pediatric Endocrinology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
4- Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.
5- Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran. ,setiladalili1346@yahoo.com
2- Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
3- Department of Pediatric Endocrinology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
4- Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.
5- Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran. ,
Abstract: (822 Views)
Background: Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by enzyme deficiencies affecting glycogen synthesis or breakdown. Glycogen, stored mainly in the liver and muscles, is crucial for maintaining glucose levels during fasting or physical activity. GSDs lead to abnormal glycogen accumulation or impaired mobilization, causing symptoms, such as hypoglycemia, hepatomegaly, and muscle weakness. Each type of GSD results from a specific enzyme deficiency, requiring tailored management.
Case Presentations: A case study of a 6-year-old boy with GSD type IX is presented, highlighting recurrent hypoglycemia, growth delay, and elevated liver enzymes. Genetic testing confirmed a PHKA2 mutation, and the patient’s management included frequent meals, cornstarch therapy, and regular liver function monitoring. The discussion emphasizes the importance of early diagnosis, genetic testing, and personalized treatment in managing GSDs.
Conclusions: Future therapies, such as gene therapy and enzyme replacement, aim to address the root causes of GSDs rather than merely managing symptoms. Family education on hypoglycemia recognition and dietary restrictions is crucial for improving patient outcomes. Ongoing research into the molecular mechanisms of GSDs offers hope for more effective treatments, especially for GSD type IX, where individualized care can prevent complications like liver cirrhosis and promote better quality of life.
Case Presentations: A case study of a 6-year-old boy with GSD type IX is presented, highlighting recurrent hypoglycemia, growth delay, and elevated liver enzymes. Genetic testing confirmed a PHKA2 mutation, and the patient’s management included frequent meals, cornstarch therapy, and regular liver function monitoring. The discussion emphasizes the importance of early diagnosis, genetic testing, and personalized treatment in managing GSDs.
Conclusions: Future therapies, such as gene therapy and enzyme replacement, aim to address the root causes of GSDs rather than merely managing symptoms. Family education on hypoglycemia recognition and dietary restrictions is crucial for improving patient outcomes. Ongoing research into the molecular mechanisms of GSDs offers hope for more effective treatments, especially for GSD type IX, where individualized care can prevent complications like liver cirrhosis and promote better quality of life.
Type of Study: Narrative Review |
Subject:
Endocrinology
Received: 2024/05/12 | Accepted: 2024/06/28 | Published: 2024/10/1
Received: 2024/05/12 | Accepted: 2024/06/28 | Published: 2024/10/1
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