PORPHYRIA, ERYTHROPOIETIC, CONGENITAL
\pɔːfˈɪɹi͡ə], \pɔːfˈɪɹiə], \p_ɔː_f_ˈɪ_ɹ_iə]\
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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.
By DataStellar Co., Ltd
Nearby Words
- porphyra
- porphyraceous
- porphyre
- porphyria
- porphyria cutanea tarda
- Porphyria, Erythropoietic, Congenital
- porphyrias
- porphyries
- porphyrin
- porphyrin metal chelatase
- porphyrinogen synthetase