Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias
Identifieur interne : 000162 ( Main/Curation ); précédent : 000161; suivant : 000163Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias
Auteurs : Siddesh Besur ; Weihong Hou ; Paul Schmeltzer ; Herbert L. BonkovskySource :
- Metabolites [ 2218-1989 ] ; 2014.
Abstract
Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias. Porphyrias are classified as hepatic and erythropoietic porphyrias based on the organ system in which heme precursors (5-aminolevulinic acid (ALA), porphobilinogen and porphyrins) are chiefly overproduced. The hepatic porphyrias are further subdivided into acute porphyrias and chronic hepatic porphyrias. The acute porphyrias include acute intermittent, hereditary copro-, variegate and ALA dehydratase deficiency porphyria. Chronic hepatic porphyrias include porphyria cutanea tarda and hepatoerythropoietic porphyria. The erythropoietic porphyrias include congenital erythropoietic porphyria (Gűnther’s disease) and erythropoietic protoporphyria. In this review, we summarize the key features of normal heme synthesis and its differing regulation in liver
Url:
DOI: 10.3390/metabo4040977
PubMed: 25372274
PubMed Central: 4279155
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias</title><author><name sortKey="Besur, Siddesh" sort="Besur, Siddesh" uniqKey="Besur S" first="Siddesh" last="Besur">Siddesh Besur</name><affiliation><nlm:aff id="af1-metabolites-04-00977">Department of Medicine and Center for Liver Disease, Carolinas HealthCare System, Charlotte, NC 28204, USA; E-Mail:<email>paul.schmeltzer@carolinas.org</email></nlm:aff></affiliation></author><author><name sortKey="Hou, Weihong" sort="Hou, Weihong" uniqKey="Hou W" first="Weihong" last="Hou">Weihong Hou</name><affiliation><nlm:aff id="af2-metabolites-04-00977">Department of Research and the Liver, Digestive, and Metabolic Disorders Laboratory, Carolinas HealthCare System, Charlotte, NC 28203, USA; E-Mail:<email>weihong.hou@carolinas.org</email></nlm:aff></affiliation></author><author><name sortKey="Schmeltzer, Paul" sort="Schmeltzer, Paul" uniqKey="Schmeltzer P" first="Paul" last="Schmeltzer">Paul Schmeltzer</name><affiliation><nlm:aff id="af1-metabolites-04-00977">Department of Medicine and Center for Liver Disease, Carolinas HealthCare System, Charlotte, NC 28204, USA; E-Mail:<email>paul.schmeltzer@carolinas.org</email></nlm:aff></affiliation></author><author><name sortKey="Bonkovsky, Herbert L" sort="Bonkovsky, Herbert L" uniqKey="Bonkovsky H" first="Herbert L." last="Bonkovsky">Herbert L. Bonkovsky</name><affiliation><nlm:aff id="af3-metabolites-04-00977">Department of Medicine, Universities of CT, Farmington, CT 06030 and North Carolina, Chapel Hill, NC 27599, USA; E-Mail:<email>hbonkovsky@me.com</email></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25372274</idno><idno type="pmc">4279155</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4279155</idno><idno type="RBID">PMC:4279155</idno><idno type="doi">10.3390/metabo4040977</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">000512</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000512</idno><idno type="wicri:Area/Pmc/Curation">000511</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000511</idno><idno type="wicri:Area/Pmc/Checkpoint">000150</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000150</idno><idno type="wicri:Area/Ncbi/Merge">000352</idno><idno type="wicri:Area/Ncbi/Curation">000352</idno><idno type="wicri:Area/Ncbi/Checkpoint">000352</idno><idno type="wicri:Area/Main/Merge">000162</idno><idno type="wicri:Area/Main/Curation">000162</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias</title><author><name sortKey="Besur, Siddesh" sort="Besur, Siddesh" uniqKey="Besur S" first="Siddesh" last="Besur">Siddesh Besur</name><affiliation><nlm:aff id="af1-metabolites-04-00977">Department of Medicine and Center for Liver Disease, Carolinas HealthCare System, Charlotte, NC 28204, USA; E-Mail:<email>paul.schmeltzer@carolinas.org</email></nlm:aff></affiliation></author><author><name sortKey="Hou, Weihong" sort="Hou, Weihong" uniqKey="Hou W" first="Weihong" last="Hou">Weihong Hou</name><affiliation><nlm:aff id="af2-metabolites-04-00977">Department of Research and the Liver, Digestive, and Metabolic Disorders Laboratory, Carolinas HealthCare System, Charlotte, NC 28203, USA; E-Mail:<email>weihong.hou@carolinas.org</email></nlm:aff></affiliation></author><author><name sortKey="Schmeltzer, Paul" sort="Schmeltzer, Paul" uniqKey="Schmeltzer P" first="Paul" last="Schmeltzer">Paul Schmeltzer</name><affiliation><nlm:aff id="af1-metabolites-04-00977">Department of Medicine and Center for Liver Disease, Carolinas HealthCare System, Charlotte, NC 28204, USA; E-Mail:<email>paul.schmeltzer@carolinas.org</email></nlm:aff></affiliation></author><author><name sortKey="Bonkovsky, Herbert L" sort="Bonkovsky, Herbert L" uniqKey="Bonkovsky H" first="Herbert L." last="Bonkovsky">Herbert L. Bonkovsky</name><affiliation><nlm:aff id="af3-metabolites-04-00977">Department of Medicine, Universities of CT, Farmington, CT 06030 and North Carolina, Chapel Hill, NC 27599, USA; E-Mail:<email>hbonkovsky@me.com</email></nlm:aff></affiliation></author></analytic><series><title level="j">Metabolites</title><idno type="eISSN">2218-1989</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias. Porphyrias are classified as hepatic and erythropoietic porphyrias based on the organ system in which heme precursors (5-aminolevulinic acid (ALA), porphobilinogen and porphyrins) are chiefly overproduced. The hepatic porphyrias are further subdivided into acute porphyrias and chronic hepatic porphyrias. The acute porphyrias include acute intermittent, hereditary copro-, variegate and ALA dehydratase deficiency porphyria. Chronic hepatic porphyrias include porphyria cutanea tarda and hepatoerythropoietic porphyria. The erythropoietic porphyrias include congenital erythropoietic porphyria (Gűnther’s disease) and erythropoietic protoporphyria. In this review, we summarize the key features of normal heme synthesis and its differing regulation in liver <italic>versus</italic> bone marrow. In both organs, principal regulation is exerted at the level of the first and rate-controlling enzyme, but by different molecules (heme in the liver and iron in the bone marrow). We also describe salient clinical, laboratory and genetic features of the eight types of porphyria.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Li, M" uniqKey="Li M">M. 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