Glycogen Storage Disease Type IX in a 6-year-old Male: A Case Report
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 lea...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Mazandaran University of Medical Sciences
2024-10-01
|
| Series: | Journal of Pediatrics Review |
| Subjects: | |
| Online Access: | http://jpr.mazums.ac.ir/article-1-676-en.pdf |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832586457621987328 |
|---|---|
| author | Shahab Noorian Hossein Moravej Zhila Afshar Afagh Hassanzadeh Rad Setila Dalili |
| author_facet | Shahab Noorian Hossein Moravej Zhila Afshar Afagh Hassanzadeh Rad Setila Dalili |
| author_sort | Shahab Noorian |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-18b728b1c0cf42c7b1c182450ea8b136 |
| institution | Kabale University |
| issn | 2322-4398 2322-4401 |
| language | English |
| publishDate | 2024-10-01 |
| publisher | Mazandaran University of Medical Sciences |
| record_format | Article |
| series | Journal of Pediatrics Review |
| spelling | doaj-art-18b728b1c0cf42c7b1c182450ea8b1362025-01-25T13:28:52ZengMazandaran University of Medical SciencesJournal of Pediatrics Review2322-43982322-44012024-10-01124369376Glycogen Storage Disease Type IX in a 6-year-old Male: A Case ReportShahab Noorian0Hossein Moravej1Zhila Afshar2Afagh Hassanzadeh Rad3Setila Dalili4 Department of Pediatrics, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran. Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran. Department of Pediatric Endocrinology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran. Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran. Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran. 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.http://jpr.mazums.ac.ir/article-1-676-en.pdfglycogen storage disease (gsds)childgenetic therapy |
| spellingShingle | Shahab Noorian Hossein Moravej Zhila Afshar Afagh Hassanzadeh Rad Setila Dalili Glycogen Storage Disease Type IX in a 6-year-old Male: A Case Report Journal of Pediatrics Review glycogen storage disease (gsds) child genetic therapy |
| title | Glycogen Storage Disease Type IX in a 6-year-old Male: A Case Report |
| title_full | Glycogen Storage Disease Type IX in a 6-year-old Male: A Case Report |
| title_fullStr | Glycogen Storage Disease Type IX in a 6-year-old Male: A Case Report |
| title_full_unstemmed | Glycogen Storage Disease Type IX in a 6-year-old Male: A Case Report |
| title_short | Glycogen Storage Disease Type IX in a 6-year-old Male: A Case Report |
| title_sort | glycogen storage disease type ix in a 6 year old male a case report |
| topic | glycogen storage disease (gsds) child genetic therapy |
| url | http://jpr.mazums.ac.ir/article-1-676-en.pdf |
| work_keys_str_mv | AT shahabnoorian glycogenstoragediseasetypeixina6yearoldmaleacasereport AT hosseinmoravej glycogenstoragediseasetypeixina6yearoldmaleacasereport AT zhilaafshar glycogenstoragediseasetypeixina6yearoldmaleacasereport AT afaghhassanzadehrad glycogenstoragediseasetypeixina6yearoldmaleacasereport AT setiladalili glycogenstoragediseasetypeixina6yearoldmaleacasereport |