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Molecular aspects of the inherited porphyrias
Author(s) -
Sassa S.,
Kappas A.
Publication year - 2000
Publication title -
journal of internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.625
H-Index - 160
eISSN - 1365-2796
pISSN - 0954-6820
DOI - 10.1046/j.1365-2796.2000.00618.x
Subject(s) - porphyria , porphyrin , protoporphyrin ix , protoporphyrin , enzyme , heme , uroporphyrinogen iii decarboxylase , medicine , biochemistry , ferrochelatase , porphobilinogen synthase , genetics , chemistry , biology , endocrinology , dehydratase , photodynamic therapy , organic chemistry
. Sassa S, Kappas A (The Rockefeller University, New York, USA). Molecular aspects of the inherited porphyrias (Review). J Intern Med 2000; 247: 169–178. 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, δ‐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]. 1Structure of major porphyrins: (a) uroporphyrin III; (b) corpoporphyrin III; (c) protoporphyrin IX.2Diseases due to enzymatic deficiency of the haem biosynthetic pathway. XLSA, X‐linked sideroblastic anaemia; Zn‐PP, zinc protoporphyrin IX; Free PP, free protoporphyrin IX; 7‐C porphyrin, 7‐carboxylate porphyrin. Other abbreviations are defined in the text.