Molecular aspects of the inherited porphyrias. Review uri icon

Overview

abstract

  • 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].

publication date

  • February 1, 2000

Research

keywords

  • Porphyrias

Identity

Scopus Document Identifier

  • 0033981851

Digital Object Identifier (DOI)

  • 10.1046/j.1365-2796.2000.00618.x

PubMed ID

  • 10692079

Additional Document Info

volume

  • 247

issue

  • 2