Glycine - CSF
Last updated: Monday, 22, March, 2004
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0.5 mL CSF.
| Reference Interval|
Diagnosis of non-ketotic hyperglycinaemia.
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.
Scriver CR et al eds. The Metabolicand Molecular Basis of Inherited Disease. 7th ed. McGraw-Hill 1995.