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Article

[Congenital erythropoietic porphyria].

Nihon rinsho. Japanese journal of clinical medicine - 1 Jun 1995

Tanigawa K, Takamura N, Yamashita S

Abstract excerpt

Congenital erythropoietic porphyria (CEP, Günther's disease) is an extremely rare autosomal recessive disease (There have been only 33 case reports in Japan to date.), characterized by mutilating cutaneous photosensitivity and abnormal haem synthesis in the bone marrow. Reduced activity of uroporphyrinogen III synthase (UROIIIS), the fourth enzyme of haem biosynthetic pathway causes this disease. Recent...

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PMID: 7616657

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