Porphyrias

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Abstract

The porphyrias are a heterogeneous group of metabolic disorders caused by genetic defects of the enzymes involved in heme biosynthesis. The diseases are characterized by excessive accumulation and excretion of porphyrin or porphyrin precursors. The disorders have been classified as cutaneous, hepatic, or neuropsychiatric according to the organ system involved. This review describes the enzymes of the heme biosynthetic pathway along with the clinical features and management of the porphyrias.

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