Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene

Authors
Kolker, S Ramaekers, VT Zschocke, J Hoffmann, GF
Citation
S. Kolker et al., Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene, J PEDIAT, 138(2), 2001, pp. 277-279
Citations number
11
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
JOURNAL OF PEDIATRICS
ISSN journal
00223476 → ACNP
Volume
138
Issue
2
Year of publication
2001
Pages
277 - 279
Database
ISI
SICI code
0022-3476(200102)138:2<277:AEDETI>2.0.ZU;2-T
Abstract
A patient with glutaric aciduria type I had an acute encephalopathic crisis despite early treatment. This report indicates that current therapeutic st rategies may be insufficient for some high-risk patients and stresses the d emand for new approaches in glutaric aciduria type I.