Related Experiment Videos
Glycogen storage disease type IV diagnosed biochemically. A case report.
Summary
Glycogen storage disease type IV (GSD IV) is a rare genetic disorder. This case report highlights unusual features and emphasizes the importance of early antenatal diagnosis for GSD IV.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Glycogen storage disease type IV (GSD IV) is a rare inherited metabolic disorder.
- It results from a deficiency in the glycogen-branching enzyme (GBE1).
- This deficiency leads to the accumulation of abnormal glycogen structures, causing cellular damage.