5C58.12
category
Erythropoietic porphyrias
Definition
Erythropoietic porphyrias are associated clinically with photosensitivity and biochemically with abnormal accumulation of porphyrins in erythrocytes. They include erythropoietic protoporphyria and the very rare congenital erythropoietic porphyria.
Also indexed as
Congenital erythropoietic porphyriaEPP - [erythropoietic protoporphyria]EPP due to ferrochelatase deficiencyEPP due to gain of function of erythroid-specific aminolevulinic acid synthase 3Erythropoietic porphyriasErythropoietic protoporphyriaErythropoietic protoporphyria due to ferrochelatase deficiencyErythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2FECH-deficient EPPFerrochelatase deficiencyGünther diseaseHeme synthetase deficiencyHereditary erythropoietic porphyriaUroporphyrinogen III synthase deficiencyX-linked dominant protoporphyriaX-linked protoporphyriaXLDPP - [X-linked dominant protoporphyria]XLP - [X-linked protoporphyria]