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Glycogen storage disease type III in Israel: presentation and long-term outcome
Pediatric Endocrinology Reviews : PER
|April 11, 2014
Summary
Glycogen storage disease type III (GSD III) predominantly affects North African Jewish populations in Israel. While symptoms often improve in adulthood, long-term monitoring is crucial due to potential complications.
Area of Science:
- Metabolic disorders
- Genetic diseases
- Pediatric endocrinology
Background:
- Glycogen storage disease type III (GSD III) exhibits a notable prevalence in North African Jewish communities within Israel.
- This study aims to delineate the long-term clinical trajectory of GSD III patients residing in Israel.
Observation:
- Twenty-one live GSD III patients were identified, with an average age of approximately 20 years.
- The majority of affected individuals (76%) were of Jewish North African descent.
- Common initial symptoms included hypoglycemia, hepatomegaly, hypotonia, and growth delay.
Findings:
- Most GSD III patients experience symptom amelioration after childhood.
- A significant minority (20%) develop serious long-term complications.
- The disease impacts various age groups, with 11 patients over 18 years old.
Implications:
- Lifelong follow-up is essential for all GSD III patients to manage potential complications.
- Understanding the long-term course aids in developing targeted management strategies.
- Genetic counseling and early intervention may be beneficial for affected families.
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