Related Experiment Videos
Glycogen storage disease type IV: a case report
1Department of Pediatrics, Catholic University of Korea School of Medicine, Taejon.
Insights
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.
Abstract:
Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disease caused by deficient glycogen branching enzyme (GBE). We report a 15-month-old female patient with GSD-IV who exhibited an abdominal distension and failure to thrive for 9 months. The patient showed hepatosplenomegaly with massive ascites. The laboratory findings showed abnormal liver functions including prolongation of prothrombin time and partial thromboplastin time. The light microscopic and electron microscopic findings of the liver biopsy specimen were consistent with GSD-IV. Measurement of glycogen quantity in the red blood cells showed increased storage of glycogen in the patient and interestingly, in her mother. The GBE activity of the patient's red blood cells was undetectable. The patient's ascites, general condition, and laboratory findings have been improved with supportive treatment with diuretics and a low dose of prednisolone.