Canadian Medical Guide > Diseases > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Porphyria, Erythropoietic Terms and Definitions

Porphyria, Erythropoietic

Medical Definition:	Autosomal recessive porphyria characterized by splenomegaly, photosensitivity, hemolytic anemia, and the appearance of red urine in early infancy. This condition results from increased synthesis of uroporphyrinogen I relative to uroporphyrinogen III in bone marrow normoblasts.
Guide Notes:	do not confuse with PROTOPORPHYRIA, ERYTHROPOIETIC see PORPHYRIA, ERYTHROHEPATIC; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
Previously Indexed:	Porphyria (1966-1992)

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