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

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).

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