Gerrits G P, Monnens L A, Gabreëls F J, De Abreu R A, Koster A, Trijbels J M
Department of Pediatrics, University of Nijmegen, The Netherlands.
J Inherit Metab Dis. 1993;16(4):670-5. doi: 10.1007/BF00711899.
After establishing more extended reference values for amino acids, purines and pyrimidines in cerebrospinal fluid (CSF) in infancy and childhood, we studied 1250 CSF-aliquots from patients who were undergoing a diagnostic lumbar puncture for diverse clinical indications. Our primary aim was to answer the question whether determination of the concentration of amino acids, purines and pyrimidines in CSF is a useful tool in screening for metabolic disorders in children with unexplained mental retardation. In unexplained mental retardation (95 patients) we observed varying abnormalities of CSF. These were reproducible in only 2 patients (a decrease of homocarnosine in combination with two unidentified compounds). Striking abnormalities in pyrimidine content which are limited to CSF are found in argininosuccinic aciduria and uraemia. In uraemia a general decrease in amino acids in CSF and increase of gamma-aminobutyric acid (GABA) was observed. The results obtained indicate that determination of amino acids, purines and pyrimidines in CSF is only of limited value in the diagnosis of unexplained mental retardation.
在确定了婴儿期和儿童期脑脊液（CSF）中氨基酸、嘌呤和嘧啶更广泛的参考值后，我们研究了1250份来自因各种临床指征接受诊断性腰椎穿刺患者的脑脊液样本。我们的主要目的是回答一个问题，即测定脑脊液中氨基酸、嘌呤和嘧啶的浓度是否是筛查不明原因智力发育迟缓儿童代谢紊乱的有用工具。在不明原因智力发育迟缓患者（95例）中，我们观察到脑脊液存在各种异常情况。这些异常仅在2例患者中可重复出现（同肌肽减少并伴有两种未鉴定的化合物）。在精氨琥珀酸尿症和尿毒症中发现了仅限于脑脊液的嘧啶含量显著异常。在尿毒症中，观察到脑脊液中氨基酸普遍减少，γ-氨基丁酸（GABA）增加。所得结果表明，测定脑脊液中氨基酸、嘌呤和嘧啶在不明原因智力发育迟缓的诊断中价值有限。
