Molecular aspects of the inherited porphyrias.
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].
Sassa
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Rockefeller University, New York, NY, USA. sasa@rockvax.rockefeller.edu
Kappas
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A
D004912:Erythrocytes / Q000378:metabolism; D006801:Humans; D009154:Mutation; D000623:Porphobilinogen Synthase / Q000172:deficiency; D017119:Porphyria Cutanea Tarda / Q000201:enzymology / Q000235:genetics; D017118:Porphyria, Acute Intermittent / Q000201:enzymology / Q000235:genetics; D017092:Porphyria, Erythropoietic / Q000201:enzymology / Q000235:genetics; D017121:Porphyria, Hepatoerythropoietic / Q000151:congenital / Q000201:enzymology / Q000235:genetics; D011164:Porphyrias / Q000201:enzymology* / Q000235:genetics* / Q000378:metabolism; D017094:Porphyrias, Hepatic / Q000201:enzymology / Q000235:genetics; D011166:Porphyrins / Q000737:chemistry
D011166:Porphyrins; D000623:Porphobilinogen Synthase