Reference data for cerebrospinal fluid and the utility of amino acid measurement for the diagnosis of inborn errors of metabolism

Ann Clin Biochem 2006;43:63-66
© 2006 Association for Clinical Biochemistry


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Original Articles

CM Jones,
M Smith and
MJ Henderson

Department of Clinical Biochemistry, St James’s University Hospital, Beckett Street, Leeds LS9 7TF, UK

Background: Cerebrospinal fluid (CSF) amino acid analysis isfundamental to the investigation of several inherited metabolicdiseases, particularly those presenting with unexplained seizures.CSF glycine measurement is often crucial to the diagnosis ofglycine encephalopathy (GE), low CSF serine concentrations arecharacteristic of 3-phosphoglycerate dehydrogenase deficiency(3-PGDD) and the presence of sulphocysteine is pathognomonicof sulphite oxidase deficiency (SOD), and a vital clue to molybdenumcofactor deficiency (MCD). Limited information is availablein the literature on reference values of amino acids in CSFduring infancy and CSF samples from healthy individuals arenot easily obtained.

Methods: In order to establish paediatric CSF amino acid referenceranges, we performed a retrospective analysis of all quantitativeCSF amino acid data collected in our laboratory over a five-yearperiod. Amino acid analysis was performed using ion-exchangechromatography on a Biochrom-20 amino acid analyser with ninhydrindetection. CSF samples were collected from infants undergoinginvestigation for unexplained seizures.

Results: About 18 of the 95 samples received were excluded from the reference data-set; one was from a patient in whom a diagnosis of GE was confirmed by enzyme analysis, one was from a patient with CSF sulphocysteine of 19 µmol/L in whom a diagnosis of SOD was confirmed by enzyme analysis; the remaining 16 were clearly bloodstained (n = 4) or xanthochromic (n = 12). Frequencyof distribution analysis revealed that concentration valuesfor each amino acid demonstrated a right-skewed distributionwhich was not normalized by log transformation. Data were thereforeanalysed using non-parametric descriptive statistics and referenceranges were defined by the 2.5th and 97.5th centile limits.

Conclusions: Our reference data were derived from 77 CSF samples taken from 77 infants. Median CSF glycine concentration was 9 µmol/L with a reference range of 3-19 µmol/L. For serine, the median CSF concentration was 52 µmol/L with a reference range of 25-105 µmol/L. Sulphocysteine was not normally present in detectable quantities (<1 µmol/L).

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