Article
Novel null-allele mutations and genotype-phenotype correlation in Argentinean patients with erythropoietic protoporphyria.
Molecular medicine (Cambridge, Mass.) - 1 Jan 2000
Parera Victoria E, Koole Rita H, Minderman Gardi, Edixhoven Annie, Rossetti Maria V, Batlle Alcira, de Rooij Felix W M
Abstract excerpt
Erythropoietic protoporphyria (EPP) is an inherited disorder of porphyrin metabolism in which decreased activity of ferrochelatase (FECH) leads to accumulation of protoporphyrin IX (PP IX) in red blood cells, plasma, liver, and bile, and increased PP IX excretion in feces. Clinically, EPP is characterized by photosensitivity that begins in early childhood and includes burning, swelling, itching, and painful...
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