Abstract
Porphyrias are inborn errors of metabolism caused by a deficiency of enzymes involved in heme synthesis. A characteristic feature of porphyrias is the excretion of porphyrins and porphyrinogens in urine. Autosomal dominant inheritance is observed in porphyrias, except ALAD-deficiency porphyria and congenital erythropoietic porphyria. Heme synthesis takes place in erythroblasts and the liver, therefore these tissues are affected in porphyrias. Porphyrias are categorized on the basis of the tissue affected in three groups: (1) hepatic porphyria; (2) erythropoietic porphyria; and (3) porphyrias with both hepatic and erythropoietic features. Patients present with anemia, abdominal pain, and neuropsychiatric features. Porphyrias are diagnosed by the presence of porphyrinogens and porphyrins in the urine and feces which are detected by spectrophotometry.
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