The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group.
Identifieur interne : 002420 ( PubMed/Corpus ); précédent : 002419; suivant : 002421The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group.
Auteurs : S. Sirrs ; C. Hollak ; M. Merkel ; A. Sechi ; E. Glamuzina ; M C Janssen ; R. Lachmann ; J. Langendonk ; M. Scarpelli ; T. Ben Omran ; F. Mochel ; M C TchanSource :
- JIMD reports [ 2192-8304 ] ; 2016.
Abstract
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.
DOI: 10.1007/8904_2015_435
PubMed: 26450566
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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:affiliation>Vancouver General Hospital, Vancouver, BC, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Hollak, C" sort="Hollak, C" uniqKey="Hollak C" first="C" last="Hollak">C. Hollak</name><affiliation><nlm:affiliation>Amsterdam Medical Centre, Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Merkel, M" sort="Merkel, M" uniqKey="Merkel M" first="M" last="Merkel">M. Merkel</name><affiliation><nlm:affiliation>Asklepios Klinik St. Georg, Hamburg, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Sechi, A" sort="Sechi, A" uniqKey="Sechi A" first="A" last="Sechi">A. Sechi</name><affiliation><nlm:affiliation>Azienda Ospedaliero-Universitaria S. Maria della Misericordia, Udine, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Glamuzina, E" sort="Glamuzina, E" uniqKey="Glamuzina E" first="E" last="Glamuzina">E. Glamuzina</name><affiliation><nlm:affiliation>Starship Children's Hospital, Auckland, New Zealand.</nlm:affiliation></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><nlm:affiliation>Nijmegen Medical Centre, Nijmegen, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Lachmann, R" sort="Lachmann, R" uniqKey="Lachmann R" first="R" last="Lachmann">R. Lachmann</name><affiliation><nlm:affiliation>National Hospital for Neurology and Neurosurgery, London, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Langendonk, J" sort="Langendonk, J" uniqKey="Langendonk J" first="J" last="Langendonk">J. Langendonk</name><affiliation><nlm:affiliation>Erasmus Medical Centre, Rotterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Scarpelli, M" sort="Scarpelli, M" uniqKey="Scarpelli M" first="M" last="Scarpelli">M. Scarpelli</name><affiliation><nlm:affiliation>University Hospital GB Rossi, Verona, Italy.</nlm:affiliation></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><nlm:affiliation>Qatar Medical Genetic Centre, Doha, Qatar.</nlm:affiliation></affiliation></author><author><name sortKey="Mochel, F" sort="Mochel, F" uniqKey="Mochel F" first="F" last="Mochel">F. Mochel</name><affiliation><nlm:affiliation>Hospitalier Pitié-Salpêtrière, Paris, France.</nlm:affiliation></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><nlm:affiliation>Westmead Hospital, Sydney, Australia. michelt@gmp.usyd.edu.au.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:26450566</idno><idno type="pmid">26450566</idno><idno type="doi">10.1007/8904_2015_435</idno><idno type="wicri:Area/PubMed/Corpus">002420</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002420</idno></publicationStmt><sourceDesc><biblStruct><analytic><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:affiliation>Vancouver General Hospital, Vancouver, BC, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Hollak, C" sort="Hollak, C" uniqKey="Hollak C" first="C" last="Hollak">C. Hollak</name><affiliation><nlm:affiliation>Amsterdam Medical Centre, Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Merkel, M" sort="Merkel, M" uniqKey="Merkel M" first="M" last="Merkel">M. Merkel</name><affiliation><nlm:affiliation>Asklepios Klinik St. Georg, Hamburg, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Sechi, A" sort="Sechi, A" uniqKey="Sechi A" first="A" last="Sechi">A. Sechi</name><affiliation><nlm:affiliation>Azienda Ospedaliero-Universitaria S. Maria della Misericordia, Udine, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Glamuzina, E" sort="Glamuzina, E" uniqKey="Glamuzina E" first="E" last="Glamuzina">E. Glamuzina</name><affiliation><nlm:affiliation>Starship Children's Hospital, Auckland, New Zealand.</nlm:affiliation></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><nlm:affiliation>Nijmegen Medical Centre, Nijmegen, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Lachmann, R" sort="Lachmann, R" uniqKey="Lachmann R" first="R" last="Lachmann">R. Lachmann</name><affiliation><nlm:affiliation>National Hospital for Neurology and Neurosurgery, London, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Langendonk, J" sort="Langendonk, J" uniqKey="Langendonk J" first="J" last="Langendonk">J. Langendonk</name><affiliation><nlm:affiliation>Erasmus Medical Centre, Rotterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Scarpelli, M" sort="Scarpelli, M" uniqKey="Scarpelli M" first="M" last="Scarpelli">M. Scarpelli</name><affiliation><nlm:affiliation>University Hospital GB Rossi, Verona, Italy.</nlm:affiliation></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><nlm:affiliation>Qatar Medical Genetic Centre, Doha, Qatar.</nlm:affiliation></affiliation></author><author><name sortKey="Mochel, F" sort="Mochel, F" uniqKey="Mochel F" first="F" last="Mochel">F. Mochel</name><affiliation><nlm:affiliation>Hospitalier Pitié-Salpêtrière, Paris, France.</nlm:affiliation></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><nlm:affiliation>Westmead Hospital, Sydney, Australia. michelt@gmp.usyd.edu.au.</nlm:affiliation></affiliation></author></analytic><series><title level="j">JIMD reports</title><idno type="ISSN">2192-8304</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><pubmed><MedlineCitation Status="PubMed-not-MEDLINE" Owner="NLM"><PMID Version="1">26450566</PMID><DateCreated><Year>2016</Year><Month>05</Month><Day>12</Day></DateCreated><DateCompleted><Year>2016</Year><Month>05</Month><Day>12</Day></DateCompleted><DateRevised><Year>2017</Year><Month>09</Month><Day>05</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Print">2192-8304</ISSN><JournalIssue CitedMedium="Print"><Volume>27</Volume><PubDate><Year>2016</Year></PubDate></JournalIssue><Title>JIMD reports</Title><ISOAbbreviation>JIMD Rep</ISOAbbreviation></Journal><ArticleTitle>The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group.</ArticleTitle><Pagination><MedlinePgn>85-91</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1007/8904_2015_435</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">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.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">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.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">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.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">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.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Sirrs</LastName><ForeName>S</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Vancouver General Hospital, Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hollak</LastName><ForeName>C</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Amsterdam Medical Centre, Amsterdam, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Merkel</LastName><ForeName>M</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Asklepios Klinik St. Georg, Hamburg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sechi</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Azienda Ospedaliero-Universitaria S. Maria della Misericordia, Udine, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Glamuzina</LastName><ForeName>E</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Starship Children's Hospital, Auckland, New Zealand.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Janssen</LastName><ForeName>M C</ForeName><Initials>MC</Initials><AffiliationInfo><Affiliation>Nijmegen Medical Centre, Nijmegen, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lachmann</LastName><ForeName>R</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>National Hospital for Neurology and Neurosurgery, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Langendonk</LastName><ForeName>J</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Erasmus Medical Centre, Rotterdam, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Scarpelli</LastName><ForeName>M</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>University Hospital GB Rossi, Verona, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ben Omran</LastName><ForeName>T</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Qatar Medical Genetic Centre, Doha, Qatar.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mochel</LastName><ForeName>F</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Hospitalier Pitié-Salpêtrière, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><CollectiveName>SFEIM-A Study Group</CollectiveName></Author><Author ValidYN="Y"><LastName>Tchan</LastName><ForeName>M C</ForeName><Initials>MC</Initials><AffiliationInfo><Affiliation>Westmead Hospital, Sydney, Australia. michelt@gmp.usyd.edu.au.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType 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