Related Experiment Videos
Glycogen storage disease type I: laboratory data and diagnosis
N W Wakid1, J G Bitar, C K Allam
1Department of Biochemistry, American University of Beirut, Lebanon.
Clinical Chemistry
|November 1, 1987
Summary
Glycogen storage disease type I presents atypically, with elevated aminotransferases consistently observed. Differentiating type IB involves assessing glucose-6-phosphatase activity in liver biopsies after freezing.
Area of Science:
- Biochemistry
- Pediatric Endocrinology
- Metabolic Disorders
Background:
- Glycogen storage disease type I (GSD I) is a group of inherited metabolic disorders.
- Classical GSD I is characterized by hyperuricemia, lactic acidemia, and lipidemia.
- Variations in clinical presentation necessitate a deeper understanding of the disease spectrum.
Purpose of the Study:
- To investigate atypical presentations of GSD I.
- To highlight the significance of aminotransferase levels in GSD I diagnosis.
- To establish a method for differentiating GSD type IA from GSD type IB.
Main Methods:
- Analysis of clinical data from 20 GSD I patients.
- Biochemical assays of serum triglycerides, total cholesterol, and aminotransferases.
- Enzyme activity assessment of glucose-6-phosphatase in liver biopsies before and after freezing.
Main Results:
- Fewer than half of patients exhibited hyperuricemia.
- All patients showed elevated serum triglycerides; two-thirds had increased total cholesterol.
- Consistent elevation of serum aminotransferases was observed in all cases.
- Freezing liver biopsy samples revealed latent glucose-6-phosphatase activity in GSD IB, normalizing enzyme levels, unlike in GSD IA.
Conclusions:
- Aminotransferase elevation is a consistent finding in GSD I and should be considered to avoid misdiagnosis.
- The classical triad of hyperuricemia, lactic acidemia, and lipidemia may not be present in all GSD I cases.
- Assessing glucose-6-phosphatase activity post-freezing is a reliable method to distinguish GSD IB from GSD IA.