Test Background CSF:plasma ratio is the preferred investigation for defects of glycine cleavage or serine deficiency. A sample for plasma amino acid analysis should be collected at the same time as the CSF.
Clinical Indications Severe encephalopathy of neonatal onset or neurological disorder with congenital microcephaly and epilepsy.
Reference Range Reference ranges will be given with the report.
Sample Required CSF in universal container and a heparin (green top) for plasma amino acids
Sample Volume 0.5 mL
Up to 3 weeks
Notes Valproate treatment can cause a mildly elevated CSF:plasma glycine ratio
Not currently performed in house; this is a referred test. Please contact GOSH metabolic/enzyme laboratory directly for more information.