AustralieFrV1, Main, Exploration, bibRecord, 002757

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group

Identifieur interne : 002757 ( Main/Exploration ); précédent : 002756; suivant : 002758

The 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.

RBID : PMC:5580735

Abstract

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.

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.

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.

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.

Electronic supplementary material

The online version of this chapter (doi:10.1007/8904_2015_435) contains supplementary material, which is available to authorized users.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5580735

DOI: 10.1007/8904_2015_435
PubMed: 26450566
PubMed Central: 5580735

Affiliations:

Allemagne, Australie, France, Italie, Nouvelle-Zélande, Pays-Bas, Qatar, Royaume-Uni
Angleterre, Grand Londres, Gueldre, Hambourg, Hollande-Méridionale, Hollande-Septentrionale, Nouvelle-Galles du Sud, Île-de-France
Amsterdam, Hambourg, Londres, Nimègue, Paris, Rotterdam, Sydney

Le document en format XML

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<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>
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<affiliations><list><country><li>Allemagne</li>
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<li>Royaume-Uni</li>
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<li>Hollande-Septentrionale</li>
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<tree><noCountry><name sortKey="Sirrs, S" sort="Sirrs, S" uniqKey="Sirrs S" first="S." last="Sirrs">S. Sirrs</name>
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<name sortKey="Janssen, M C" sort="Janssen, M C" uniqKey="Janssen M" first="M. C." last="Janssen">M. C. Janssen</name>
<name sortKey="Langendonk, J" sort="Langendonk, J" uniqKey="Langendonk J" first="J." last="Langendonk">J. Langendonk</name>
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<country name="Allemagne"><region name="Hambourg"><name sortKey="Merkel, M" sort="Merkel, M" uniqKey="Merkel M" first="M." last="Merkel">M. Merkel</name>
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<name sortKey="Scarpelli, M" sort="Scarpelli, M" uniqKey="Scarpelli M" first="M." last="Scarpelli">M. Scarpelli</name>
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<country name="Nouvelle-Zélande"><noRegion><name sortKey="Glamuzina, E" sort="Glamuzina, E" uniqKey="Glamuzina E" first="E." last="Glamuzina">E. Glamuzina</name>
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<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Lachmann, R" sort="Lachmann, R" uniqKey="Lachmann R" first="R." last="Lachmann">R. Lachmann</name>
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</noRegion>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Mochel, F" sort="Mochel, F" uniqKey="Mochel F" first="F." last="Mochel">F. Mochel</name>
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<country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Tchan, M C" sort="Tchan, M C" uniqKey="Tchan M" first="M. C." last="Tchan">M. C. Tchan</name>
</region>
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The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group

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	Serveur d'exploration sur les relations entre la France et l'Australie
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.