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Semin Liver Dis 1998; 18(1): 95-101
DOI: 10.1055/s-2007-1007145
DOI: 10.1055/s-2007-1007145
ORIGINAL ARTICLE
© 1998 by Thieme Medical Publishers, Inc.
ALAD Porphyria
Weitere Informationen
Publikationsverlauf
Publikationsdatum:
17. März 2008 (online)
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.
KEY WORDS
ALAD - ALA dehydratase - δ-aminolevulinate dehydratase - ALAD porphyria - porphyria