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Molecular aspects of the inherited porphyrias.
- Source :
-
Journal of internal medicine [J Intern Med] 2000 Feb; Vol. 247 (2), pp. 169-78. - Publication Year :
- 2000
-
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].
- Subjects :
- Erythrocytes metabolism
Humans
Mutation
Porphobilinogen Synthase deficiency
Porphyria Cutanea Tarda enzymology
Porphyria Cutanea Tarda genetics
Porphyria, Acute Intermittent enzymology
Porphyria, Acute Intermittent genetics
Porphyria, Erythropoietic enzymology
Porphyria, Erythropoietic genetics
Porphyria, Hepatoerythropoietic congenital
Porphyria, Hepatoerythropoietic enzymology
Porphyria, Hepatoerythropoietic genetics
Porphyrias metabolism
Porphyrias, Hepatic enzymology
Porphyrias, Hepatic genetics
Porphyrins chemistry
Porphyrias enzymology
Porphyrias genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0954-6820
- Volume :
- 247
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Journal of internal medicine
- Publication Type :
- Academic Journal
- Accession number :
- 10692079
- Full Text :
- https://doi.org/10.1046/j.1365-2796.2000.00618.x