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• W2095737297 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." @default.
• W2095737297 created "2016-06-24" @default.
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• W2095737297 date "1999-11-01" @default.
• W2095737297 modified "2023-10-14" @default.
• W2095737297 title "Increased Cerebrospinal Fluid Glycine: A Biochemical Marker for a Leukoencephalopathy With Vanishing White Matter" @default.
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• W2095737297 doi "https://doi.org/10.1177/088307389901401108" @default.
• W2095737297 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10593550" @default.
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