Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.

Détails

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Etat: Public
Version: de l'auteur
ID Serval
serval:BIB_49445BA1D763
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.
Périodique
Journal of Inherited Metabolic Disease
Auteur(s)
Rüegger C.M., Lindner M., Ballhausen D., Baumgartner M.R., Beblo S., Das A., Gautschi M., Glahn E.M., Grünert S.C., Hennermann J., Hochuli M., Huemer M., Karall D., Kölker S., Lachmann R.H., Lotz-Havla A., Möslinger D., Nuoffer J.M., Plecko B., Rutsch F., Santer R., Spiekerkoetter U., Staufner C., Stricker T., Wijburg F.A., Williams M., Burgard P., Häberle J.
ISSN
1573-2665 (Electronic)
ISSN-L
0141-8955
Statut éditorial
Publié
Date de publication
2014
Volume
37
Numéro
1
Pages
21-30
Langue
anglais
Notes
Publication types: Journal ArticlePublication Status: ppublish
Résumé
Urea cycle disorders (UCDs) are inherited disorders of ammonia detoxification often regarded as mainly of relevance to pediatricians. Based on an increasing number of case studies it has become obvious that a significant number of UCD patients are affected by their disease in a non-classical way: presenting outside the newborn period, following a mild course, presenting with unusual clinical features, or asymptomatic patients with only biochemical signs of a UCD. These patients are surviving into adolescence and adulthood, rendering this group of diseases clinically relevant to adult physicians as well as pediatricians. In preparation for an international workshop we collected data on all patients with non-classical UCDs treated by the participants in 20 European metabolic centres. Information was collected on a cohort of 208 patients 50% of which were ≥ 16 years old. The largest subgroup (121 patients) had X-linked ornithine transcarbamylase deficiency (OTCD) of whom 83 were female and 29% of these were asymptomatic. In index patients, there was a mean delay from first symptoms to diagnosis of 1.6 years. Cognitive impairment was present in 36% of all patients including female OTCD patients (in 31%) and those 41 patients identified presymptomatically following positive newborn screening (in 12%). In conclusion, UCD patients with non-classical clinical presentations require the interest and care of adult physicians and have a high risk of neurological complications. To improve the outcome of UCDs, a greater awareness by health professionals of the importance of hyperammonemia and UCDs, and ultimately avoidance of the still long delay to correctly diagnose the patients, is crucial.
Pubmed
Web of science
Open Access
Oui
Création de la notice
24/01/2014 19:34
Dernière modification de la notice
20/08/2019 14:56
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