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.
Severe encephalopathy of neonatal onset or neurological disorder with congenital microcephaly and epilepsy.
|Reference ranges will be given with the report.|
CSF in universal container and a heparin (green top) for plasma amino acids
Up to 3 weeks
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.