title: Cerebrospinal fluid amino acids, purines and pyrimidines as a tool in the study of metabolic brain diseases.
abstract: 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.
authors.affiliation: Department of Pediatrics, University of Nijmegen, The Netherlands.
authors.forename: G P
authors.initials: GP
authors.lastname: Gerrits
authors.forename: L A
authors.initials: LA
authors.lastname: Monnens
authors.forename: F J
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: R A
authors.initials: RA
authors.lastname: De Abreu
authors.forename: A
authors.initials: A
authors.lastname: Koster
authors.forename: J M
authors.initials: JM
authors.lastname: Trijbels
mesh_terms: D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000134:cerebrospinal fluid; D000596:Amino Acids / Q000134:cerebrospinal fluid*; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000134:cerebrospinal fluid* / Q000209:etiology; D007676:Kidney Failure, Chronic / Q000134:cerebrospinal fluid; D008661:Metabolism, Inborn Errors / Q000134:cerebrospinal fluid*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000134:cerebrospinal fluid; D011687:Purines / Q000134:cerebrospinal fluid*; D011743:Pyrimidines / Q000134:cerebrospinal fluid*; D012016:Reference Values
chemical_list: D000596:Amino Acids; D011687:Purines; D011743:Pyrimidines