User:Jameswalker yu/急性間歇性紫質症

Jameswalker yu/急性間歇性紫質症
	左側為第一天尚未曝光的尿液，右側為曝光三天後的尿液呈現波特酒顏色。此顏色變化是由於尿液中膽色素原累積進而分解成Porphobilin和增加的紫質所造成，表示紫質代謝途徑阻礙。有時顏色變化會被誤認為血尿。
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]

急性間歇性紫質症(Acute intermittent porphyria ，簡稱AIP。也稱作 Swedish porphyria, pyrroloporphyria和 intermittent acute porphyria)是一種參與紫質合成中的胆色素原脱氨酶（英语：Porphobilinogen deaminase）部分缺陷造成之罕見體染色體神經內臟疾病。是最常見的急性紫質症，盛行率約10萬分之5^[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..

[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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