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07:16
Biochemical Titration of Glycogen In vitro
Published on: November 24, 2013
Hepatocellular failure in glycogen storage disorder type 3
S A Ingle1, N D Moulick, N U Ranadive
1Department of Pathology, Lokmanya Tilak Muncipal Medical College and Hospital, Sion, Mumbai--400 022.
The Journal of the Association of Physicians of India
|January 20, 2005
Summary
A young male patient with glycogen storage disease type 3 (GSD3) died from severe gastrointestinal bleeding due to liver failure. This case highlights the critical complications of GSD3.
Area of Science:
- Biochemistry
- Genetics
- Pathology
Background:
- Glycogen storage disease type 3 (GSD3), also known as Cori disease, is a rare inherited metabolic disorder.
- It results from a deficiency in the debranching enzyme (amylo-1,6-glucosidase), leading to abnormal glycogen accumulation in liver and muscle.
- GSD3 can manifest with varying severity, impacting hepatic and muscular functions.
Observation:
- This report details a fatal case of a 21-year-old male with GSD3.
- The patient presented with sudden death attributed to hypovolemic shock.
- The immediate cause of death was massive upper gastrointestinal bleeding secondary to hepatocellular failure.
Findings:
- Diagnosis of GSD3 was established post-mortem through necropsy.
- The underlying pathology involved severe hepatocellular failure, leading to impaired liver function.
- Massive upper gastrointestinal bleeding was identified as the direct cause of hypovolemic shock and death.
Implications:
- This case underscores the potential for severe, life-threatening complications in GSD3, particularly gastrointestinal bleeding.
- It emphasizes the importance of early diagnosis and comprehensive management strategies for GSD3 patients.
- Understanding the pathophysiology of hepatocellular failure in GSD3 is crucial for improving patient outcomes and preventing sudden mortality.
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