丝氨酸
甘氨酸
中枢神经系统
脑脊液
丝氨酸羟甲基转移酶
生物
内分泌学
内科学
医学
生物化学
酶
氨基酸
作者
Sabine A. Fuchs,L. Dorland,Monique G. de Sain-van der Velden,Margriet M. W. B. Hendriks,Leo W. J. Klomp,Ruud Berger,Tom J. de Koning
摘要
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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