用户:Jameswalker yu/急性间歇性紫质症

Jameswalker yu/急性间歇性紫质症
Jameswalker yu/急性间歇性紫质症
	左侧为第一天尚未曝光的尿液，右侧为曝光三天后的尿液呈现波特酒颜色。此颜色变化是由于尿液中胆色素原累积进而分解成Porphobilin和增加的紫质所造成，表示紫质代谢途径阻碍。有时颜色变化会被误认为血尿。
分类和外部资源
ICD-10	E80.2
ICD-9-CM	277.1
OMIM	176000
DiseasesDB	171
eMedicine	med/1880
MeSH	D017118
GeneReviews	Hydroxymethylbilane Synthase (HMBS) Deficiency;
	[编辑此条目的维基数据]

急性间歇性紫质症(Acute intermittent porphyria ，简称AIP。也称作 Swedish porphyria, pyrroloporphyria和 intermittent acute porphyria)是一种参与紫质合成中的胆色素原脱氨酶（英语：Porphobilinogen deaminase）部分缺陷造成之罕见体染色体神经内脏疾病。是最常见的急性紫质症，盛行率约10万分之5^[1]

[1]
Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sideroblastic anemias and the porphyrias. In: The Metabolic and Molecular Basis of Inherited Disease, 8th ed, Scriver CR, Beaudet AL, Sly WS, et al. (Eds), McGraw-Hill, New York 2001. p.2991..

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[1] [1]
Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sideroblastic anemias and the porphyrias. In: The Metabolic and Molecular Basis of Inherited Disease, 8th ed, Scriver CR, Beaudet AL, Sly WS, et al. (Eds), McGraw-Hill, New York 2001. p.2991..

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