The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group
Identifieur interne : 000985 ( Pmc/Curation ); précédent : 000984; suivant : 000986The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group
Auteurs : S. Sirrs ; C. Hollak [Pays-Bas] ; M. Merkel [Allemagne] ; A. Sechi [Italie] ; E. Glamuzina [Nouvelle-Zélande] ; M. C. Janssen [Pays-Bas] ; R. Lachmann [Royaume-Uni] ; J. Langendonk [Pays-Bas] ; M. Scarpelli [Italie] ; T. Ben Omran [Qatar] ; F. Mochel [France] ; M. C. Tchan [Australie]Source :
- JIMD Reports [ 2192-8304 ] ; 2015.
Abstract
The online version of this chapter (doi:10.1007/8904_2015_435) contains supplementary material, which is available to authorized users.
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DOI: 10.1007/8904_2015_435
PubMed: 26450566
PubMed Central: 5580735
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group</title><author><name sortKey="Sirrs, S" sort="Sirrs, S" uniqKey="Sirrs S" first="S." last="Sirrs">S. Sirrs</name><affiliation><nlm:aff id="Aff13">Vancouver General Hospital, Vancouver, BC Canada</nlm:aff><wicri:noCountry code="subfield">BC Canada</wicri:noCountry></affiliation></author><author><name sortKey="Hollak, C" sort="Hollak, C" uniqKey="Hollak C" first="C." last="Hollak">C. Hollak</name><affiliation wicri:level="1"><nlm:aff id="Aff14">Amsterdam Medical Centre, Amsterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Amsterdam Medical Centre, Amsterdam</wicri:regionArea></affiliation></author><author><name sortKey="Merkel, M" sort="Merkel, M" uniqKey="Merkel M" first="M." last="Merkel">M. Merkel</name><affiliation wicri:level="1"><nlm:aff id="Aff15">Asklepios Klinik St. Georg, Hamburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Asklepios Klinik St. Georg, Hamburg</wicri:regionArea></affiliation></author><author><name sortKey="Sechi, A" sort="Sechi, A" uniqKey="Sechi A" first="A." last="Sechi">A. Sechi</name><affiliation wicri:level="1"><nlm:aff id="Aff16">Azienda Ospedaliero-Universitaria S. Maria della Misericordia, Udine, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Azienda Ospedaliero-Universitaria S. Maria della Misericordia, Udine</wicri:regionArea></affiliation></author><author><name sortKey="Glamuzina, E" sort="Glamuzina, E" uniqKey="Glamuzina E" first="E." last="Glamuzina">E. Glamuzina</name><affiliation wicri:level="1"><nlm:aff id="Aff17">Starship Children’s Hospital, Auckland, New Zealand</nlm:aff><country xml:lang="fr">Nouvelle-Zélande</country><wicri:regionArea>Starship Children’s Hospital, Auckland</wicri:regionArea></affiliation></author><author><name sortKey="Janssen, M C" sort="Janssen, M C" uniqKey="Janssen M" first="M. C." last="Janssen">M. C. Janssen</name><affiliation wicri:level="1"><nlm:aff id="Aff18">Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Nijmegen Medical Centre, Nijmegen</wicri:regionArea></affiliation></author><author><name sortKey="Lachmann, R" sort="Lachmann, R" uniqKey="Lachmann R" first="R." last="Lachmann">R. Lachmann</name><affiliation wicri:level="1"><nlm:aff id="Aff19">National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Hospital for Neurology and Neurosurgery, London</wicri:regionArea></affiliation></author><author><name sortKey="Langendonk, J" sort="Langendonk, J" uniqKey="Langendonk J" first="J." last="Langendonk">J. Langendonk</name><affiliation wicri:level="1"><nlm:aff id="Aff20">Erasmus Medical Centre, Rotterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Erasmus Medical Centre, Rotterdam</wicri:regionArea></affiliation></author><author><name sortKey="Scarpelli, M" sort="Scarpelli, M" uniqKey="Scarpelli M" first="M." last="Scarpelli">M. Scarpelli</name><affiliation wicri:level="1"><nlm:aff id="Aff21">University Hospital GB Rossi, Verona, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>University Hospital GB Rossi, Verona</wicri:regionArea></affiliation></author><author><name sortKey="Ben Omran, T" sort="Ben Omran, T" uniqKey="Ben Omran T" first="T." last="Ben Omran">T. Ben Omran</name><affiliation wicri:level="1"><nlm:aff id="Aff22">Qatar Medical Genetic Centre, Doha, Qatar</nlm:aff><country xml:lang="fr">Qatar</country><wicri:regionArea>Qatar Medical Genetic Centre, Doha</wicri:regionArea></affiliation></author><author><name sortKey="Mochel, F" sort="Mochel, F" uniqKey="Mochel F" first="F." last="Mochel">F. Mochel</name><affiliation wicri:level="1"><nlm:aff id="Aff23">Hospitalier Pitié-Salpêtrière, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Hospitalier Pitié-Salpêtrière, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Tchan, M C" sort="Tchan, M C" uniqKey="Tchan M" first="M. C." last="Tchan">M. C. Tchan</name><affiliation wicri:level="1"><nlm:aff id="Aff24">Westmead Hospital, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Westmead Hospital, Sydney</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26450566</idno><idno type="pmc">5580735</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5580735</idno><idno type="RBID">PMC:5580735</idno><idno type="doi">10.1007/8904_2015_435</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000A08</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000A08</idno><idno type="wicri:Area/Pmc/Curation">000985</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000985</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group</title><author><name sortKey="Sirrs, S" sort="Sirrs, S" uniqKey="Sirrs S" first="S." last="Sirrs">S. Sirrs</name><affiliation><nlm:aff id="Aff13">Vancouver General Hospital, Vancouver, BC Canada</nlm:aff><wicri:noCountry code="subfield">BC Canada</wicri:noCountry></affiliation></author><author><name sortKey="Hollak, C" sort="Hollak, C" uniqKey="Hollak C" first="C." last="Hollak">C. Hollak</name><affiliation wicri:level="1"><nlm:aff id="Aff14">Amsterdam Medical Centre, Amsterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Amsterdam Medical Centre, Amsterdam</wicri:regionArea></affiliation></author><author><name sortKey="Merkel, M" sort="Merkel, M" uniqKey="Merkel M" first="M." last="Merkel">M. Merkel</name><affiliation wicri:level="1"><nlm:aff id="Aff15">Asklepios Klinik St. Georg, Hamburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Asklepios Klinik St. Georg, Hamburg</wicri:regionArea></affiliation></author><author><name sortKey="Sechi, A" sort="Sechi, A" uniqKey="Sechi A" first="A." last="Sechi">A. Sechi</name><affiliation wicri:level="1"><nlm:aff id="Aff16">Azienda Ospedaliero-Universitaria S. Maria della Misericordia, Udine, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Azienda Ospedaliero-Universitaria S. Maria della Misericordia, Udine</wicri:regionArea></affiliation></author><author><name sortKey="Glamuzina, E" sort="Glamuzina, E" uniqKey="Glamuzina E" first="E." last="Glamuzina">E. Glamuzina</name><affiliation wicri:level="1"><nlm:aff id="Aff17">Starship Children’s Hospital, Auckland, New Zealand</nlm:aff><country xml:lang="fr">Nouvelle-Zélande</country><wicri:regionArea>Starship Children’s Hospital, Auckland</wicri:regionArea></affiliation></author><author><name sortKey="Janssen, M C" sort="Janssen, M C" uniqKey="Janssen M" first="M. C." last="Janssen">M. C. Janssen</name><affiliation wicri:level="1"><nlm:aff id="Aff18">Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Nijmegen Medical Centre, Nijmegen</wicri:regionArea></affiliation></author><author><name sortKey="Lachmann, R" sort="Lachmann, R" uniqKey="Lachmann R" first="R." last="Lachmann">R. Lachmann</name><affiliation wicri:level="1"><nlm:aff id="Aff19">National Hospital for Neurology and Neurosurgery, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Hospital for Neurology and Neurosurgery, London</wicri:regionArea></affiliation></author><author><name sortKey="Langendonk, J" sort="Langendonk, J" uniqKey="Langendonk J" first="J." last="Langendonk">J. Langendonk</name><affiliation wicri:level="1"><nlm:aff id="Aff20">Erasmus Medical Centre, Rotterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Erasmus Medical Centre, Rotterdam</wicri:regionArea></affiliation></author><author><name sortKey="Scarpelli, M" sort="Scarpelli, M" uniqKey="Scarpelli M" first="M." last="Scarpelli">M. Scarpelli</name><affiliation wicri:level="1"><nlm:aff id="Aff21">University Hospital GB Rossi, Verona, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>University Hospital GB Rossi, Verona</wicri:regionArea></affiliation></author><author><name sortKey="Ben Omran, T" sort="Ben Omran, T" uniqKey="Ben Omran T" first="T." last="Ben Omran">T. Ben Omran</name><affiliation wicri:level="1"><nlm:aff id="Aff22">Qatar Medical Genetic Centre, Doha, Qatar</nlm:aff><country xml:lang="fr">Qatar</country><wicri:regionArea>Qatar Medical Genetic Centre, Doha</wicri:regionArea></affiliation></author><author><name sortKey="Mochel, F" sort="Mochel, F" uniqKey="Mochel F" first="F." last="Mochel">F. Mochel</name><affiliation wicri:level="1"><nlm:aff id="Aff23">Hospitalier Pitié-Salpêtrière, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Hospitalier Pitié-Salpêtrière, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Tchan, M C" sort="Tchan, M C" uniqKey="Tchan M" first="M. C." last="Tchan">M. C. Tchan</name><affiliation wicri:level="1"><nlm:aff id="Aff24">Westmead Hospital, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Westmead Hospital, Sydney</wicri:regionArea></affiliation></author></analytic><series><title level="j">JIMD Reports</title><idno type="ISSN">2192-8304</idno><idno type="eISSN">2192-8312</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="Par1"><italic>Background</italic>: There are few centres which specialise in the care of adults with inborn errors of metabolism (IEM). To anticipate facilities and staffing needed at these centres, it is of interest to know the distribution of the different disorders.</p><p id="Par2"><italic>Methods</italic>: A survey was distributed through the list-serve of the SSIEM Adult Metabolic Physicians group asking clinicians for number of patients with confirmed diagnoses, types of diagnoses and age at diagnosis.</p><p id="Par3"><italic>Results</italic>: Twenty-four adult centres responded to our survey with information on 6,692 patients. Of those 6,692 patients, 510 were excluded for diagnoses not within the IEM spectrum (e.g. bone dysplasias, hemochromatosis) or for age less than 16 years, leaving 6,182 patients for final analysis. The most common diseases followed by the adult centres were phenylketonuria (20.6%), mitochondrial disorders (14%) and lysosomal storage disorders (Fabry disease (8.8%), Gaucher disease (4.2%)). Amongst the disorders that can present with acute metabolic decompensation, the urea cycle disorders, specifically ornithine transcarbamylase deficiency, were most common (2.2%), followed by glycogen storage disease type I (1.5%) and maple syrup urine disease (1.1%). Patients were frequently diagnosed as adults, particularly those with mitochondrial disease and lysosomal storage disorders.</p><p id="Par4"><italic>Conclusions</italic>: A wide spectrum of IEM are followed at adult centres. Specific knowledge of these disorders is needed to provide optimal care including up-to-date knowledge of treatments and ability to manage acute decompensation.</p><sec><title>Electronic supplementary material</title><p>The online version of this chapter (doi:10.1007/8904_2015_435) contains supplementary material, which is available to authorized users.</p></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">JIMD Rep</journal-id><journal-id journal-id-type="iso-abbrev">JIMD Rep</journal-id><journal-title-group><journal-title>JIMD Reports</journal-title></journal-title-group><issn pub-type="ppub">2192-8304</issn><issn pub-type="epub">2192-8312</issn><publisher><publisher-name>Springer Berlin Heidelberg</publisher-name><publisher-loc>Berlin, Heidelberg</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">26450566</article-id><article-id pub-id-type="pmc">5580735</article-id><article-id pub-id-type="publisher-id">435</article-id><article-id pub-id-type="doi">10.1007/8904_2015_435</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Sirrs</surname><given-names>S.</given-names></name><xref ref-type="aff" rid="Aff13">13</xref></contrib><contrib contrib-type="author"><name><surname>Hollak</surname><given-names>C.</given-names></name><xref ref-type="aff" rid="Aff14">14</xref></contrib><contrib contrib-type="author"><name><surname>Merkel</surname><given-names>M.</given-names></name><xref ref-type="aff" rid="Aff15">15</xref></contrib><contrib contrib-type="author"><name><surname>Sechi</surname><given-names>A.</given-names></name><xref ref-type="aff" rid="Aff16">16</xref></contrib><contrib contrib-type="author"><name><surname>Glamuzina</surname><given-names>E.</given-names></name><xref ref-type="aff" rid="Aff17">17</xref></contrib><contrib contrib-type="author"><name><surname>Janssen</surname><given-names>M. C.</given-names></name><xref ref-type="aff" rid="Aff18">18</xref></contrib><contrib contrib-type="author"><name><surname>Lachmann</surname><given-names>R.</given-names></name><xref ref-type="aff" rid="Aff19">19</xref></contrib><contrib contrib-type="author"><name><surname>Langendonk</surname><given-names>J.</given-names></name><xref ref-type="aff" rid="Aff20">20</xref></contrib><contrib contrib-type="author"><name><surname>Scarpelli</surname><given-names>M.</given-names></name><xref ref-type="aff" rid="Aff21">21</xref></contrib><contrib contrib-type="author"><name><surname>Ben Omran</surname><given-names>T.</given-names></name><xref ref-type="aff" rid="Aff22">22</xref></contrib><contrib contrib-type="author"><name><surname>Mochel</surname><given-names>F.</given-names></name><xref ref-type="aff" rid="Aff23">23</xref></contrib><contrib contrib-type="author"><collab>the SFEIM-A Study Group</collab></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Tchan</surname><given-names>M. C.</given-names></name><address><email>michelt@gmp.usyd.edu.au</email></address><xref ref-type="aff" rid="Aff24">24</xref></contrib><aff id="Aff13"><label>13</label>Vancouver General Hospital, Vancouver, BC Canada</aff><aff id="Aff14"><label>14</label>Amsterdam Medical Centre, Amsterdam, The Netherlands</aff><aff id="Aff15"><label>15</label>Asklepios Klinik St. Georg, Hamburg, Germany</aff><aff id="Aff16"><label>16</label>Azienda Ospedaliero-Universitaria S. Maria della Misericordia, Udine, Italy</aff><aff id="Aff17"><label>17</label>Starship Children’s Hospital, Auckland, New Zealand</aff><aff id="Aff18"><label>18</label>Nijmegen Medical Centre, Nijmegen, The Netherlands</aff><aff id="Aff19"><label>19</label>National Hospital for Neurology and Neurosurgery, London, UK</aff><aff id="Aff20"><label>20</label>Erasmus Medical Centre, Rotterdam, The Netherlands</aff><aff id="Aff21"><label>21</label>University Hospital GB Rossi, Verona, Italy</aff><aff id="Aff22"><label>22</label>Qatar Medical Genetic Centre, Doha, Qatar</aff><aff id="Aff23"><label>23</label>Hospitalier Pitié-Salpêtrière, Paris, France</aff><aff id="Aff24"><label>24</label>Westmead Hospital, Sydney, Australia</aff></contrib-group><contrib-group content-type="collaborators"><contrib contrib-type="Series editor"><name><surname>Baumgartner</surname><given-names>Matthias</given-names></name><xref ref-type="aff" rid="Aff1">1</xref></contrib><contrib contrib-type="Series editor"><name><surname>Patterson</surname><given-names>Marc</given-names></name><xref ref-type="aff" rid="Aff2">2</xref></contrib><contrib contrib-type="Series editor"><name><surname>Rahman</surname><given-names>Shamima</given-names></name><xref ref-type="aff" rid="Aff3">3</xref></contrib><contrib contrib-type="Series editor"><name><surname>Peters</surname><given-names>Verena</given-names></name><xref ref-type="aff" rid="Aff4">4</xref></contrib><contrib contrib-type="Editor-in-chief"><name><surname>Morava</surname><given-names>Eva</given-names></name><xref ref-type="aff" rid="Aff5">5</xref></contrib><contrib contrib-type="Series editor"><name><surname>Zschocke</surname><given-names>Johannes</given-names></name><xref ref-type="aff" rid="Aff6">6</xref></contrib><aff id="Aff1"><label>1</label>Div Metabolism & Children’s Res Ctr, Univ Children’s Hosp Zurich, Zurich, Switzerland</aff><aff id="Aff2"><label>2</label>Div of Child & Adolescent Neurology, Mayo Clinic, Rochester, Minnesota USA</aff><aff id="Aff3"><label>3</label>Clinical & Molecular Genetics Unit Clinical and Molecular Genetics Unit, Univ Coll London Inst of Child Health, London, United Kingdom</aff><aff id="Aff4"><label>4</label>Managing Editor JIMD Univ Children´s Hospital Heidelberg, Univ Children´s Hospital Heidelberg, Heidelberg, Germany</aff><aff id="Aff5"><label>5</label>Hayward Genetics Ctr,SL#31, Tulane Univ Medical Health Ctr, New Orleans, Louisiana USA</aff><aff id="Aff6"><label>6</label>Division of Human Genetics Medical University Innsbruck, Medical University Innsbruck, Innsbruck, Austria</aff></contrib-group><author-notes><fn fn-type="com"><p>Communicated by: Francois Feillet, MD, PhD</p></fn></author-notes><pub-date pub-type="epub"><day>9</day><month>10</month><year>2015</year></pub-date><pub-date pub-type="collection"><year>2016</year></pub-date><volume>27</volume><fpage>85</fpage><lpage>91</lpage><history><date date-type="received"><day>16</day><month>11</month><year>2014</year></date><date date-type="rev-recd"><day>19</day><month>03</month><year>2015</year></date><date date-type="accepted"><day>23</day><month>03</month><year>2015</year></date></history><permissions><copyright-statement>© SSIEM and Springer-Verlag Berlin Heidelberg 2015</copyright-statement></permissions><abstract id="Abs1"><p id="Par1"><italic>Background</italic>: There are few centres which specialise in the care of adults with inborn errors of metabolism (IEM). To anticipate facilities and staffing needed at these centres, it is of interest to know the distribution of the different disorders.</p><p id="Par2"><italic>Methods</italic>: A survey was distributed through the list-serve of the SSIEM Adult Metabolic Physicians group asking clinicians for number of patients with confirmed diagnoses, types of diagnoses and age at diagnosis.</p><p id="Par3"><italic>Results</italic>: Twenty-four adult centres responded to our survey with information on 6,692 patients. Of those 6,692 patients, 510 were excluded for diagnoses not within the IEM spectrum (e.g. bone dysplasias, hemochromatosis) or for age less than 16 years, leaving 6,182 patients for final analysis. The most common diseases followed by the adult centres were phenylketonuria (20.6%), mitochondrial disorders (14%) and lysosomal storage disorders (Fabry disease (8.8%), Gaucher disease (4.2%)). Amongst the disorders that can present with acute metabolic decompensation, the urea cycle disorders, specifically ornithine transcarbamylase deficiency, were most common (2.2%), followed by glycogen storage disease type I (1.5%) and maple syrup urine disease (1.1%). Patients were frequently diagnosed as adults, particularly those with mitochondrial disease and lysosomal storage disorders.</p><p id="Par4"><italic>Conclusions</italic>: A wide spectrum of IEM are followed at adult centres. Specific knowledge of these disorders is needed to provide optimal care including up-to-date knowledge of treatments and ability to manage acute decompensation.</p><sec><title>Electronic supplementary material</title><p>The online version of this chapter (doi:10.1007/8904_2015_435) contains supplementary material, which is available to authorized users.</p></sec></abstract><custom-meta-group><custom-meta><meta-name>issue-copyright-statement</meta-name><meta-value>© SSIEM and Springer-Verlag Berlin Heidelberg 2016</meta-value></custom-meta></custom-meta-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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