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

Marjo S. Van Der Knaap, Ron A. Wevers, Shigeo Kure, Fons J.M. Gabreëls, Nanda M. Verhoeven, Bertie Van Raaij-Selten, Jaak Jaeken

研究成果: Article査読

49 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)728-731
ページ数4
ジャーナルJournal of Child Neurology
14
11
DOI
出版ステータスPublished - 1999 11

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 臨床神経学

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