TY - JOUR
T1 - Adults with an inherited metabolic disorder
T2 - A rapidly growing population with unique challenges
AU - Namens de werkgroep INVEST
AU - Brouwers, Martijn C.G.J.
AU - Linthorst, Gabor E.
AU - Karstens, François P.J.
AU - Rennings, Alexander
AU - Alkemade, Gonnie
AU - Meersseman, Wouter
AU - Cassiman, David
AU - Thijs, Abel
AU - Wolffenbuttel, Bruce H.R.
AU - Hollak, Carla E.M.
AU - Janssen, Mirian C.H.
AU - Langendonk, Janneke G.
PY - 2014/1/1
Y1 - 2014/1/1
N2 - Inherited metabolic disorders consist of a diverse group of more than 800 rare disorders. Metabolic disorders used to be principally the clinical domain of paediatricians, because of their inherited character and the frequently limited life expectancy. Not all metabolic disorders are revealed during childhood; a significant proportion will first appear in adulthood. The number of adult patients with an inherited metabolic disorder is increasing due to improved clinical care and extended diagnostic modalities. This increase means that more medical specialties will be confronted with this patient population. Adult clinical care has its own specific challenges, such as the care of patients with an inherited metabolic disorder during pregnancy. Prolonged fasting, for instance around a surgical procedure, can lead to life-threatening metabolic disruption, especially when the appropriate precautions have not been taken. The INVEST group is an initiative founded by Dutch and Belgian internists with the purpose of improving the care of adults patients with a metabolic disorder
AB - Inherited metabolic disorders consist of a diverse group of more than 800 rare disorders. Metabolic disorders used to be principally the clinical domain of paediatricians, because of their inherited character and the frequently limited life expectancy. Not all metabolic disorders are revealed during childhood; a significant proportion will first appear in adulthood. The number of adult patients with an inherited metabolic disorder is increasing due to improved clinical care and extended diagnostic modalities. This increase means that more medical specialties will be confronted with this patient population. Adult clinical care has its own specific challenges, such as the care of patients with an inherited metabolic disorder during pregnancy. Prolonged fasting, for instance around a surgical procedure, can lead to life-threatening metabolic disruption, especially when the appropriate precautions have not been taken. The INVEST group is an initiative founded by Dutch and Belgian internists with the purpose of improving the care of adults patients with a metabolic disorder
UR - http://www.scopus.com/inward/record.url?scp=84907658580&partnerID=8YFLogxK
M3 - Article
C2 - 25096043
SN - 0028-2162
VL - 158
SP - 229
EP - 239
JO - Nederlands Tijdschrift voor Geneeskunde
JF - Nederlands Tijdschrift voor Geneeskunde
IS - 37
ER -