Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter.

Abstract:

: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.

journal_name

J Child Neurol

authors

van der Knaap MS,Wevers RA,Kure S,Gabreëls FJ,Verhoeven NM,van Raaij-Selten B,Jaeken J

doi

10.1177/088307389901401108

subject

Has Abstract

pub_date

1999-11-01 00:00:00

pages

728-31

issue

11

eissn

0883-0738

issn

1708-8283

journal_volume

14

pub_type

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