The porphyrias
- PMID: 3513498
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The porphyrias
Am Fam Physician.
1986 Mar.
Abstract
The porphyrias are caused by hereditary defects in the synthesis of heme. Each porphyria is characterized by a unique enzyme defect and measurable elevations of specific heme precursors. While qualitatively normal, these precursors accumulate to cause protean signs and symptoms. Photosensitivity should raise the suspicion of a porphyria, especially in a child or a young adult. The skin, teeth and eyes may provide clues to the diagnosis in some cases.
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