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

Details

Serval ID
serval:BIB_637040010CDA
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
Journal
Journal of inherited metabolic disease
Author(s)
Boy N., Mühlhausen C., Maier E.M., Heringer J., Assmann B., Burgard P., Dixon M., Fleissner S., Greenberg C.R., Harting I., Hoffmann G.F., Karall D., Koeller D.M., Krawinkel M.B., Okun J.G., Opladen T., Posset R., Sahm K., Zschocke J., Kölker S.
Working group(s)
Additional individual contributors
Contributor(s)
Koletzko B., Ballhausen D., Burlina A.B., Fingerhut R., García-Cazorla A., Lindner M., Scholl-Bürgi S., Vom Dahl S.
ISSN
1573-2665 (Electronic)
ISSN-L
0141-8955
Publication state
Published
Issued date
01/2017
Volume
40
Number
1
Pages
75-101
Language
english
Notes
Publication types: Review ; Journal Article
Publication Status: ppublish
Abstract
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.

Pubmed
Create date
14/02/2017 17:00
Last modification date
21/08/2019 5:33
Usage data