AI Article Synopsis
- Porphyrias are inherited disorders affecting heme biosynthesis, categorized into three types: neurovisceral, cutaneous, and mixed, based on the deficient enzyme.
- Many people with porphyria experience vague symptoms, leading to misdiagnosis, but acute types can be life-threatening, highlighting the need for accurate diagnosis and treatment.
- The text explores the history, causes, symptoms, diagnosis, and treatment of porphyrias, along with a brief overview of the eight different types and their unique characteristics.
Article Abstract
Porphyrias are a group of inherited disorders of heme biosynthesis classified as neurovisceral, cutaneous, or mixed. A deficiency of any of the 8 enzymes in the biosynthetic pathway can lead to a variety of clinical symptoms. Classification depends on the defective enzyme. Porphyrias often are misdiagnosed because patients have vague symptoms. However, acute forms of porphyria can be life-threatening, so it is important to make an accurate diagnosis and initiate proper medical management. We discuss the history, pathogenesis, clinical manifestations, diagnosis, and treatment of porphyrias and then briefly describe the 8 types of porphyrias and their distinguishing features.
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| http://dx.doi.org/10.1309/8TGG-7CX1-4XCM-6N4L | DOI Listing |
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