Medical Definition of Congenital erythropoietic porphyria

1. A group of metabolic disorders that result from a disturbance in porphyrin metabolism, causing increased formation and excretion of porphyrin or its precursors. Acute intermittent porphyria is a rare inherited (autosomal dominant) form that can result in abdominal pain, photosensitivity and neurological disturbances. The various forms can be differntiated measuring various blood prophyrins. Inheritance: autosomal dominant. (27 Sep 1997)

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