TY - CHAP
T1 - The frequencies of different inborn errors of metabolism in adult metabolic centres
T2 - Report from the SSIEM adult metabolic physicians group
AU - SFEIM-A Study Group
AU - Sirrs, S.
AU - Hollak, C.
AU - Merkel, M.
AU - Sechi, A.
AU - Glamuzina, E.
AU - Janssen, M. C.
AU - Lachmann, R.
AU - Langendonk, J.
AU - Scarpelli, M.
AU - Ben Omran, T.
AU - Mochel, F.
AU - Tchan, M. C.
AU - Besson, G.
AU - Bienvenu, B.
AU - Corne, C.
AU - Douillard, C.
AU - Garnotel, R.
AU - Goizet, C.
AU - Jaussaud, R.
AU - Kaminsky, P.
AU - Kaphan, E.
AU - Laforêt, P.
AU - Lavigne, C.
AU - Leguy-Seguin, V.
AU - Maillot, F.
AU - Mazodier, K.
AU - Nadjar, Y.
AU - Noel, E.
AU - Read, M. H.
AU - Servais, A.
AU - Thauvin, C.
AU - Tourbah, A.
N1 - Publisher Copyright: © SSIEM and Springer-Verlag Berlin Heidelberg 2015.
PY - 2016
Y1 - 2016
N2 - 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.
AB - 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.
KW - Fabry disease
KW - Gauche disease
KW - Glycogen storage disease
KW - Mitochondrial disease
KW - Newborn screening
UR - http://www.scopus.com/inward/record.url?scp=84992686518&partnerID=8YFLogxK
U2 - https://doi.org/10.1007/8904_2015_435
DO - https://doi.org/10.1007/8904_2015_435
M3 - Chapter
T3 - JIMD Reports
SP - 85
EP - 91
BT - JIMD Reports
PB - Springer
ER -