Buchumschlag

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. The enzymatic defect results in elevated concentrations of glu...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Boy, Nikolas (VerfasserIn) , Heringer-Seifert, Jana (VerfasserIn) , Assmann, Birgit (VerfasserIn) , Burgard, Peter (VerfasserIn) , Harting, Inga (VerfasserIn) , Hoffmann, Georg F. (VerfasserIn) , Okun, Jürgen G. (VerfasserIn) , Opladen, Thomas (VerfasserIn) , Posset, Roland (VerfasserIn) , Sahm, Katja (VerfasserIn) , Kölker, Stefan (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 2017
In: Journal of inherited metabolic disease
Year: 2016, Jahrgang: 40, Heft: 1, Pages: 75-101
ISSN:1573-2665
DOI:10.1007/s10545-016-9999-9
Online-Zugang:Verlag, Volltext: http://dx.doi.org/10.1007/s10545-016-9999-9
Verlag, Volltext: https://link.springer.com/article/10.1007/s10545-016-9999-9
Volltext
Verfasserangaben:Nikolas Boy, Chris Mühlhausen, Esther M. Maier, Jana Heringer, Birgit Assmann, Peter Burgard, Marjorie Dixon, Sandra Fleissner, Cheryl R. Greenberg, Inga Harting, Georg F. Hoffmann, Daniela Karall, David M. Koeller, Michael B. Krawinkel, Jürgen G. Okun, Thomas Opladen, Roland Posset, Katja Sahm, Johannes Zschocke, Stefan Kölker, additional individual contributors
Beschreibung
Zusammenfassung:Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. The enzymatic defect results in elevated concentrations of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutaryl carnitine in body tissues, which can be reliably detected by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines). Most untreated individuals with GA-I experience acute encephalopathic crises during the first 6 years of life that are triggered by infectious diseases, febrile reaction to vaccinations, and surgery. These crises result in striatal injury and consequent dystonic movement disorder; thus, significant mortality and morbidity results. In some patients, neurologic disease may also develop without clinically apparent crises at any age. Neonatal screening for GA-I us being used in a growing number of countries worldwide and is cost effective. Metabolic treatment, consisting of low lysine diet, carnitine supplementation, and intensified emergency treatment during catabolism, is effective treatment and improves neurologic outcome in those individuals diagnosed early; treatment after symptom onset, however, is less effective. Dietary treatment is relaxed after age 6 years and should be supervised by specialized metabolic centers. The major aim of this second revision of proposed recommendations is to re-evaluate the previous recommendations (Kölker et al. J Inherit Metab Dis 30:5-22, 2007b; J Inherit Metab Dis 34:677-694, 2011) and add new research findings, relevant clinical aspects, and the perspective of affected individuals.
Beschreibung:Published online: 16 November 2016
Gesehen am 05.06.2018
Beschreibung:Online Resource
ISSN:1573-2665
DOI:10.1007/s10545-016-9999-9

Ähnliche Einträge