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Hepatic Porphyria Presenting with Persistent Abdominal Pain: A Case Report and Literature Review
Ying Yu1, Lixia Yu1, Minghui Li2
1Shaoxing Joint Training Base Zhejiang Chinese Medical University, Hangzhou 310053, Zhejiang Province, China.
This case study details a 74-year-old male diagnosed with hepatic porphyria, an enzyme deficiency disorder. Early recognition and genetic testing are crucial for managing this condition, especially when therapies are limited.
Area of Science:
- Biochemistry
- Genetics
- Hepatology
Background:
- Hepatic porphyria is an autosomal dominant disorder affecting hepatic porphyrin metabolism.
- It is characterized by enzyme deficiencies, leading to metabolic pathway disruptions.
- Symptoms include abdominal colic and neuropsychiatric manifestations, often triggered by external factors.
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