The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group

There are still few centres, which specialise in the care of adults with inborn errors of metabolism (IEM). All physicians who participated in the SSIEM adult metabolic physicians group paper in 2014 were contacted to provide updated data on their IEM patients. Fifteen adult centres responded to our survey with information on their patients. Nine thousand, six hundred fifty-one patients were included in the final cohort, compared with 6 182 in the previous analysis. There were 394 separate diagnoses. The most common diseases were phenylketonuria (19.6%), mitochondrial disorders (12.3%) and lysosomal storage disorders such as Fabry disease (20.1% of LSD's), Pompe disease (3.1%), and Gaucher disease (2.8%). Among the disorders that can present with acute metabolic decompensation, the urea cycle disorders (4.0%), were most common (ornithine transcarbamylase deficiency 2.6%), followed by maple syrup urine disease (1.1%) and glycogen storage disease type I (0.7%). Patients were frequently diagnosed as adults, particularly those with mitochondrial disease and lysosomal storage disorders. Many patients are only diagnosed in adulthood (> 40%) and the cohort is increasing substantially with 9 651 patients included in the final analysis (34% increase compared to our original paper). Thus reinforcing the need for adult specialists to be trained in this area.

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Publication Details

Journal
Journal of Inherited Metabolic Disease
Published
2025-02-06
DOI
https://doi.org/10.1002/jimd.70005
Citations
5
Primary Topic
Metabolism and Genetic Disorders
Type
article
Field-Weighted Citation Impact
6.59
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article

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group

Laura van Dussen, Michel Tchan, Martin Merkel, K. Mazodier et al.
5 citations
Journal of Inherited Metabolic Disease
Metabolism and Genetic Disorders
6.59
article

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group

Laura van Dussen, Michel Tchan, Martin Merkel, K. Mazodier, Elsa Kaphan, Bryony Ryder, Annalisa Sechi, Anna Lehman, Elaine Murphy, Cécilia Marelli, Fanny Mochel, Mirjam Langeveld, V. Leguy‐Seguin, Jean‐Baptiste Arnoux, Mirian C. H. Janssen, Emma Glamuzina, Quentin Thomas, F. Maillot, Janneke G. Langendonk, Gonnie Alkemade
article en
5 citations

Abstract

There are still few centres, which specialise in the care of adults with inborn errors of metabolism (IEM). All physicians who participated in the SSIEM adult metabolic physicians group paper in 2014 were contacted to provide updated data on their IEM patients. Fifteen adult centres responded to our survey with information on their patients. Nine thousand, six hundred fifty-one patients were included in the final cohort, compared with 6 182 in the previous analysis. There were 394 separate diagnoses. The most common diseases were phenylketonuria (19.6%), mitochondrial disorders (12.3%) and lysosomal storage disorders such as Fabry disease (20.1% of LSD's), Pompe disease (3.1%), and Gaucher disease (2.8%). Among the disorders that can present with acute metabolic decompensation, the urea cycle disorders (4.0%), were most common (ornithine transcarbamylase deficiency 2.6%), followed by maple syrup urine disease (1.1%) and glycogen storage disease type I (0.7%). Patients were frequently diagnosed as adults, particularly those with mitochondrial disease and lysosomal storage disorders. Many patients are only diagnosed in adulthood (> 40%) and the cohort is increasing substantially with 9 651 patients included in the final analysis (34% increase compared to our original paper). Thus reinforcing the need for adult specialists to be trained in this area.

Journal of Inherited Metabolic DiseaseVol. 48(2)
Université de Tours (FR), Hôpital Necker-Enfants Malades (FR), University of Udine (IT), Radboud University Nijmegen (NL), Inserm (FR), École Pratique des Hautes Études (FR), Erasmus MC (NL), Vancouver General Hospital (CA), Radboud University Medical Center (NL), Westmead Hospital (AU), Sorbonne Université (FR), Assistance Publique Hôpitaux de Marseille (FR), Auckland District Health Board (NZ), CHU Dijon Bourgogne (FR), Pitié-Salpêtrière Hospital (FR), Asklepios Klinik St. Georg (DE), Amsterdam University Medical Centers (NL), Hôpital de la Timone (FR), University of Amsterdam (NL)
Good health and well-being
Openalex Percentile: Top 4%
Metabolism and Genetic Disorders
6.59
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