Diagnosis and management of glutaric aciduria type I.

Détails

ID Serval
serval:BIB_CF60DC6DF05C
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Titre
Diagnosis and management of glutaric aciduria type I.
Périodique
Journal of Inherited Metabolic Disease
Auteur⸱e⸱s
Barić I., Zschocke J., Christensen E., Duran M., Goodman S.I., Leonard J.V., Müller E., Morton D.H., Superti-Furga A., Hoffmann G.F.
ISSN
0141-8955 (Print)
ISSN-L
0141-8955
Statut éditorial
Publié
Date de publication
1998
Volume
21
Numéro
4
Pages
326-340
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Review Publication Status: ppublish
Résumé
Glutaric aciduria type I (GA1) is a preventable cause of acute brain damage in early childhood, leading to a severe dystonic-dyskinetic disorder that is similar to cerebral palsy and ranges from extreme hypotonia to choreoathetosis to rigidity with spasticity. Degeneration of the putamen and caudate typically occurs between 6 and 18 months of age and is probably linked to changes in metabolic demand caused by normal maturational changes and superimposed catabolic stress. Recognition of this biochemical disorder before the brain has been injured is essential to outcome. Diagnosis depends upon the recognition of relatively non-specific physical findings such as hypotonia, irritability and macrocephaly, and on performance of urine organic acid quantification by gas chromatography--mass spectrometry or selective searches of urine or blood specimens by tandem mass spectrometry for glutarylcarnitine. The diagnosis may also be suggested by characteristic findings on neuroimaging. In selected patients diagnosis can only be reached by enzyme assay. Specific current management by the authors of this paper includes pharmacological doses of L-carnitine, as well as dietary protein restriction. Metabolic decompensation must be treated aggressively to avoid permanent brain damage. Multicentre studies are needed to establish best methods of diagnosis and optimal therapy of this disorder.
Mots-clé
Amino Acid Metabolism, Inborn Errors/diagnosis, Amino Acid Metabolism, Inborn Errors/therapy, Glutaryl-CoA Dehydrogenase, Homemaker Services, Humans, Oxidoreductases/deficiency, Oxidoreductases Acting on CH-CH Group Donors, Patient Care Management, Time Factors
Pubmed
Web of science
Création de la notice
14/03/2011 16:09
Dernière modification de la notice
20/08/2019 15:49
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