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

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

Pages

2142-2144

Issue

12

Volume

64

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 January 26, 2022, https://pedpalascnetlibrary.omeka.net/items/show/13343.

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