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Uroporphyrinogen III synthase deficiency

Introduction: Uroporphyrinogen III synthase deficiency

Description of Uroporphyrinogen III synthase deficiency

Uroporphyrinogen III synthase deficiency: An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.
Source: Diseases Database

Uroporphyrinogen III synthase deficiency: Related Topics

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Source: Diseases Database

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