| 单词 | erythropoietic protoporphyria |
| 释义 | > as lemmaserythropoietic protoporphyria A disorder of porphyrin metabolism in which there is excessive accumulation of protoporphyrin in the body; spec. (more fully erythropoietic protoporphyria) an inherited (autosomal dominant) disorder in which reduced activity of the mitochondrial enzyme ferrochelatase causes accumulation of protoporphyrin IX in erythrocytes, hepatocytes, and serum, leading to photosensitivity of the skin and, often, liver disease. ΘΚΠ the world > health and disease > ill health > a disease > disorders of internal organs > disorders of blood > [noun] > disorders of red cells microcythaemia1876 microcytosis1885 haemolysis1890 macrocytosis1893 macrocythaemia1894 anisocytosis1903 sickling1923 hyperchromasia1929 hypochromasia1929 hyperchromia1931 hypochromia1931 spherocytosis1933 protoporphyria1956 1956 Blakiston's New Gould Med. Dict. (ed. 2) 975/1 Protoporphyria, the presence of protoporphyrin in red blood cells. 1961 I. A. Magnus et al. in Lancet 26 Aug. 451/2 The absence of uroporphyrin clearly distinguishes this syndrome from congenital porphyria. It seems to be a hitherto undescribed erythropoietic condition for which we suggest the name ‘erythropoietic protoporphyria’. 1975 Jrnl. Investigative Dermatol. 65 300 Acute phototoxic reactions were induced by long-wave ultraviolet light (UV-A) in mice with griseofulvin-induced protoporphyria. 1987 Jrnl. Biol. Chem. 262 667 The ferrochelatase defect in bovine protoporphyria probably results from a point gene mutation that causes a minor change in enzyme structure. 2005 Blood 106 1098 Mutations resulting in diminished activity of the dimeric enzyme ferrochelatase are a prerequisite for the inherited disorder erythropoietic protoporphyria. < as lemmas |
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