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Glycogen storage disease type IV: a case report
1Department of Pediatrics, Catholic University of Korea School of Medicine, Taejon.
Journal of Korean Medical Science
|June 4, 1998
Summary
Glycogen storage disease type IV (GSD-IV) is a rare genetic disorder. This case report details a patient with GSD-IV, highlighting diagnostic findings and improved symptoms with supportive care.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disorder.
- It results from a deficiency in glycogen branching enzyme (GBE).
Observation:
- A 15-month-old female presented with abdominal distension and failure to thrive.
- Clinical signs included hepatosplenomegaly, massive ascites, and abnormal liver function tests.
- Liver biopsy confirmed GSD-IV, with increased glycogen in red blood cells, including the mother.
Findings:
- GBE activity was undetectable in the patient's red blood cells.
- Supportive treatment with diuretics and low-dose prednisolone led to clinical improvement.
- Ascites, general condition, and laboratory findings showed positive response to treatment.
Implications:
- This case highlights key diagnostic features of GSD-IV.
- It underscores the importance of GBE activity measurement in diagnosing GSD-IV.
- Supportive management can improve outcomes in GSD-IV patients.