Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency
Title
Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency
Creator
Kulkens S; Harting I; Sauer S; Zschocke J; Hoffmann GF; Gruber S; Bodamer OA; Kolker S
Identifier
Publisher
Neurology
Date
2005
Subject
Humans; Male; Aged; Treatment Outcome; Disease Progression; Magnetic Resonance Imaging; Food; Q3 Literature Search; Brain Diseases; Age of Onset; DNA Mutational Analysis; Mutation/genetics; Metabolic; Atrophy/enzymology/genetics/physiopathology; Carnitine/therapeutic use; Cerebral Cortex/enzymology/pathology/physiopathology; Cognition Disorders/enzymology/genetics/physiopathology; Formulated; Glutaryl-CoA Dehydrogenase/deficiency; Inborn/enzymology/genetics/physiopathology; Lateral Ventricles/pathology; Movement Disorders/enzymology/genetics/physiopathology; Myelinated/pathology; Nerve Fibers
Description
Neurologic disease in glutaryl-CoA dehydrogenase (GCDH) deficiency usually presents with acute encephalopathic crises before 2 years of age. The authors report two previously asymptomatic patients with macrocephaly presenting with progressive neurologic deterioration and a severe leukoencephalopathy during adolescence or adulthood.
2005
Rights
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
Journal Article
Citation List Month
Backlog
Citation
Kulkens S; Harting I; Sauer S; Zschocke J; Hoffmann GF; Gruber S; Bodamer OA; Kolker S, “Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency,” Pediatric Palliative Care Library, accessed April 22, 2025, https://pedpalascnetlibrary.omeka.net/items/show/13343.