Porphyria, Erythropoietic
| 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. |
| 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) |
Porphyria, Erythropoietic Definitions and Terms
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