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ALAD porphyria.

作者信息

Sassa S

机构信息

Laboratory for Biochemical Hematology, Rockefeller University, New York, N.Y. 10021, USA.

出版信息

Semin Liver Dis. 1998;18(1):95-101. doi: 10.1055/s-2007-1007145.

Abstract

ALAD porphyria is an autosomal recessive disorder resulting from a homozygous aminolevulinic acid dehydratase (ALAD) deficiency. Because of an almost complete lack of ALAD activity, patients excrete a large amount of ALA, but not PBG, 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 PBG overproduction, and by markedly decreased ALAD activity.

摘要

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