Advanced Search

Journal Navigation

Journal Home

Subscriptions

Archive

Contact Us

Table of Contents

http://mc.manuscriptcentral.com/childneurology

Click here to sign up for SAGE Journal Email Alerts today!

Sign In to gain access to subscriptions and/or personal tools.
Journal of Child Neurology
This Article
Right arrow Full Text (PDF)
Right arrow References
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to Saved Citations
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Request Reprints
Right arrow Add to My Marked Citations
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Right arrow Citing Articles via Scopus
Google Scholar
Right arrow Articles by van der Knaap, M. S.
Right arrow Articles by Jaeken, J.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by van der Knaap, M. S.
Right arrow Articles by Jaeken, J.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati  
What's this?

Increased Cerebrospinal Fluid Glycine: A Biochemical Marker for a Leukoencephalopathy With Vanishing White Matter

Marjo S. van der Knaap, MD, PhD

Department of Child Neurology, Free University Hospital, Amsterdam, The Netherlands, ms.vanderknaap{at}azvu.nl

Ron A. Wevers, PhD

Laboratory of Pediatrics and Neurology, University Hospital Sint Radboud, Nijmegen, The Netherlands

Shigeo Kure, MD

Department of Medical Genetics, Tohoku University School of Medicine Sendai, Japan

Fons J. M. Gabreëls, MD, PhD

Interdisciplinary Center for Child Neurology University Hospital Sint Radboud, Nijmegen, The Netherlands

Nanda M. Verhoeven, PhD

Department of Clinical Chemistry, Metabolic Unit Free University Hospital, Amsterdam, The Netherlands

Bertie van Raaij-Selten

Laboratory of Pediatrics and Neurology, University Hospital Sint Radboud, Nijmegen, The Netherlands

Jaak Jaeken, MD, PhD

Center for Metabolic Disease, University Hospital Gasthuisberg Leuven, Belgium

Recently, a new disease entity has been defined: the disease of vanishing white matter. This leukoencephalopathy has an autosomal-recessive mode of inheritance. No cause or biochemical marker is known. We studied cerebrospinal fluid amino acids in five patients with the disease and found a consistent, moderate elevation of cerebrospinal fluid glycine in all. The ratio of cerebrospinal fluid to plasma glycine was elevated in four patients, in two patients reaching the level considered diagnostic for nonketotic hyperglycinemia. The activity of the glycine cleavage system was found to be normal in lymphoblasts in two patients. The elevation of cerebrospinal fluid glycine in the disease of vanishing white matter is either caused by a primary disturbance of glycine metabolism or is secondary to excitotoxic brain damage. (J Child Neurol 1999;14:728-731).

Journal of Child Neurology, Vol. 14, No. 11, 728-731 (1999)
DOI: 10.1177/088307389901401108
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati    What's this?


This article has been cited by other articles:


Home page
 BMJ Case ReportsHome page
A M Ryan, J Ryan, M Wan-Ahmed, O Hardiman, M A Farrell, B McNamara, and B J Sweeney
Vacuolar leucoencephalopathy and pulvinar sign in association with coeliac disease
BMJ Case Reports, January 22, 2009; 2009(jan21_1): bcr0820080650 - bcr0820080650.
[Abstract] [Full Text]

Home page
 NeurologyHome page
A. Vanderver, Y. Hathout, J. Maletkovic, E. S. Gordon, M. Mintz, M. Timmons, E. P. Hoffman, L. Horzinski, F. Niel, A. Fogli, et al.
Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder
Neurology, June 3, 2008; 70(23): 2226 - 2232.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurol. Neurosurg. PsychiatryHome page
A M Ryan, J Ryan, M Wan-Ahmed, O Hardiman, M A Farrell, B McNamara, and B J Sweeney
Vacuolar leucoencephalopathy and pulvinar sign in association with coeliac disease
J. Neurol. Neurosurg. Psychiatry, January 1, 2007; 78(1): 98 - 99.
[Full Text] [PDF]

Home page
 NeurologyHome page
J. E. Hoover-Fong, S. Shah, J. L.K. Van Hove, D. Applegarth, J. Toone, and A. Hamosh
Natural history of nonketotic hyperglycinemia in 65 patients
Neurology, November 23, 2004; 63(10): 1847 - 1853.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Neuroradiol.Home page
M. S. Van der Knaap and R. N. Sener
Forget About "van der Knaap Syndrome," Forget about Glycine
AJNR Am. J. Neuroradiol., May 1, 2003; 24(5): 1030 - 1030.
[Full Text] [PDF]

Home page
 NeurologyHome page
A. Fogli, C. Dionisi-Vici, F. Deodato, A. Bartuli, O. Boespflug-Tanguy, and E. Bertini
A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation
Neurology, December 24, 2002; 59(12): 1966 - 1968.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Neuroradiol.Home page
R. N. Sener
Demonstration of Glycine Peaks at 3.50 ppm in a Patient with van der Knaap Syndrome
AJNR Am. J. Neuroradiol., September 1, 2001; 22(8): 1587 - 1589.
[Abstract] [Full Text] [PDF]