Molecular aspects of the inherited porphyrias

被引：63

作者：

Sassa, S ^{[1
]}

Kappas, A ^{[1
]}

机构：

[1] Rockefeller Univ, New York, NY 10021 USA

来源：

JOURNAL OF INTERNAL MEDICINE | 2000年 / 247卷 / 02期

关键词：

erythropoietic porphyria; haem biosynthesis; hepatic porphyria; porphyria;

D O I：

10.1046/j.1365-2796.2000.00618.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The porphyrias are diseases due to marked deficiencies of enzymes of the haem biosynthetic pathway (Fig. 1). Except for the first enzyme of the pathway, delta-aminolevulinate synthase (ALAS), deficiencies in seven other enzymes are associated with the various forms of porphyria (Fig. 2). Porphyrias can be classified as either hepatic or erythroid, depending on the major site of production of porphyrins or their precursors. The pathogenesis of all inherited porphyrias has now been defined at the molecular level, and it is clear that there is a great deal of genetic heterogeneity in each porphyria [1].

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收藏

页码：169 / 178

页数：10

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