Annals of Neurology · 2006 · 54 citations · 21 references
Life SciencesNeurobiologyNeuroscienceDevelopmental NeurobiologyDevelopmental NeuroscienceNeurochemistryAmino Acid Metabolism DisordersDevelopmental NeurologyInborn Errors Of MetabolismInfant Neurological DevelopmentNeurodevelopmental DisordersNeurodevelopmental GeneticsCerebrospinal Fluid SystemChild Brain DevelopmentGlycine MetabolismSerine Biosynthesis DefectsSerine MetabolismSerine Neurochemistry
To elucidate the role of D-serine in human central nervous system, we analyzed D-serine, L-serine, and glycine concentrations in cerebrospinal fluid of healthy children and children with a defective L-serine biosynthesis (3-phosphoglycerate dehydrogenase deficiency). Healthy children showed high D-serine concentrations immediately after birth, both absolutely and relative to glycine and L-serine, declining to low values at infancy. D-Serine concentrations were almost undetectable in untreated 3-phosphoglycerate dehydrogenase-deficient patients. In one patient treated prenatally, D-serine concentration was nearly normal at birth and the clinical phenotype was normal. These observations suggest a pivotal role for D-serine in normal and aberrant human brain development.
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