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A simple, rapid test for the differential diagnosis of glycogen storage disease type 3
Jalaluddin Bhuiyan1, Ali N Al Odaib, Pinar T Ozand
1Department of Pathology and Laboratory Medicine, Section of Clinical Biochemistry, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Insights
Type 3 glycogen storage disease, a metabolic disorder causing hepatosplenomegaly, can be diagnosed using creatine kinase (CK) levels. This marker aids in early identification and management of affected infants and adolescents.
Area of Science:
- Biochemistry
- Pediatric Metabolism
- Inborn Errors of Metabolism
Background:
- Type 3 glycogen storage disease is a rare metabolic disorder in infants.
- It typically presents with hepatosplenomegaly and can lead to myopathy and cardiomyopathy in adolescence.
- Diagnosing this condition is crucial due to its common presentation with hepatosplenomegaly.
Purpose of the Study:
- To investigate the clinical and biochemical findings in patients with Type 3 glycogen storage disease.
- To identify reliable diagnostic markers for Type 3 glycogen storage disease.
- To assess the utility of creatine kinase (CK) in diagnosing this condition.
Main Methods:
- Clinical and biochemical data from 26 patients with Type 3 glycogen storage disease were analyzed.
- Biochemical parameters including ALT, AST, total CK, and CK-MB were measured.
- Statistical analysis was performed to identify significant indicators.
Main Results:
- Variations in ALT, AST, and total CK levels were observed across patients.
- Creatine kinase (CK) emerged as a significant diagnostic indicator.
- CK was identified as a potential pathognomic marker for Type 3 glycogen storage disease.
Conclusions:
- Creatine kinase (CK) levels can serve as a valuable diagnostic marker for Type 3 glycogen storage disease.
- Utilizing CK testing may streamline the diagnostic process, reducing the need for extensive workups.
- Early identification through CK measurement can facilitate prompt management of affected individuals.
Background:
Type 3 glycogen storage disease is an inborn error of metabolism in young infants that often requires extensive workup. However, this disease manifests with few symptoms other than hepatosplenomegaly. At adolescence, this disease may cause myopathy and cardiomyopathy. Since a significant portion of referrals to pediatrics is for evaluation of a hepatosplenomegaly, the differential diagnosis of this disease assumes importance.
Methods:
The clinical and biochemical findings in 26 patients with the type 3 glycogen storage disease were investigated. Biochemical parameters included ALT, AST, total CK and CK-MB.
Results:
Changes in ALT, AST and total CK were observed to varying degrees. However, CK was found to be a diagnostic indicator for type 3 glycogen storage disease and appears to be a pathognomic marker.
Conclusions:
Use of CK may reduce the need for extensive diagnostic profiles and aid in the rapid identification and initiation of management for patients presenting with hepatosplenomegaly.