ALAD porphyria

被引：64

作者：

Sassa, S ^{[1
]}

机构：

[1] Rockefeller Univ, Lab Biochem Hematol, New York, NY 10021 USA

来源：

SEMINARS IN LIVER DISEASE | 1998年 / 18卷 / 01期

关键词：

ALAD; ALA dehydratase; delta-aminolevulinate dehydratase; ALAD porphyria; porphyria;

D O I：

10.1055/s-2007-1007145

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

ALAD porphyria is an autosomal recessive disorder resulting from a homozygous aminolevulinic acid dehydratase (ALAD) deficiency. Because of art almost complete lack of ALAD activity, patients excrete a large amount of ALA, but not PEG, into urine. The symptoms in this disease are similar to those seen in AIP, but ALAD porphyria can be differentiated from AIP by its autosomal recessive, rather than dominant, inheritance, by the lack of PEG overproduction, and by markedly decreased ALAD activity.

引用

页码：95 / 101

页数：7

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