Amino acids (CSF)
| Category | Biochemistry >> Metabolic |
|---|---|
| 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 & container required | CSF in universal container and a heparin (green top) for plasma amino acids |
| Sample volume | 0.5 mL |
| Turnaround time | 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. |