Glycine - CSF
Last updated: Monday, 22, March, 2004
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| Item | Process |
|---|---|
| Specimen | 0.5 mL CSF. |
| Method | HPLC. |
| Reference Interval | 2-10 µmol/L. |
| Application | Diagnosis of non-ketotic hyperglycinaemia. |
| Interpretation | Patients presenting with clinical features of non-ketotic hyperglycinaemia (hypotonia myoclonus, lethargy in the first week of life, progressive spastic diplegia in late onset form) may not actually show hyperglycinaemia. CSF glycine and CSF/plasma glycine ratio are more definitive. |
| Reference | Scriver CR et al eds. The Metabolicand Molecular Basis of Inherited Disease. 7th ed. McGraw-Hill 1995. |