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Hemesynthesis defects and porphyrias
http://purl.org/dc/terms/description
Defects in the heme biosynthesis in a hepatocyte can result in specific metabolic disorders called porphyrias. These diseases can be split into two categories, namely acute porphyrias and non-acute porphyrias. Acute hepatic porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and Doss porphyria (ALADP) are all part of the acute-hepatic porphyrias. This type is often associated with an overproduction of neurotoxic porphyrins and porphyrin precursors.
The non-acute porphyrias include, porphyria cutanea tarda, erythropoietic porphyria, and congenital erythropoietic porphyria. These diseases are instead characterised by photosensitivity of the skin and in severe cases liver damage, caused by porphyrins. Another type of porphyria are the X-linked protoporphyria diseases, which are a result of a gain of function mutation in the 5-aminolevulinic acid synthase 2 gene. This causes an accumulation of protoporphyrin IX.
The disease present in the patient is determined by what enzyme is affected in the heme biosynthesis pathway.
This pathway has been constructed using chapter 33 of the book; Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases (first edition), by N.Blau et al (ISBN 3642403360 (978-3642403361)).
http://purl.org/dc/terms/identifier http://purl.org/spar/cito/cites
https://identifiers.org/pubmed/10692079
https://identifiers.org/pubmed/27496948
https://identifiers.org/pubmed/30594473
https://identifiers.org/pubmed/31326287
https://identifiers.org/pubmed/31085196
https://identifiers.org/pubmed/20506125
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