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.