Glycine CSF

Keywords: Glycine cerebrospinal fluid

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. 1995. McGraw-Hill.