Analysis is designed primarily for the investigation and monitoring of inherited disorders of amino acid metabolism, in conjunction with plasma amino acids.
Patients with non-ketotic hyperglycinemia (NKH) generally have an elevated CSF glycine, and always have an elevated CSF glycine:plasma glycine ratio. The plasma and CSF samples should be collected at the same time.
Urine amino acids are also useful for diagnosis of NKH and other amino acidurias.
Specialist Biochemistry
CQAA
Centrifuge, separate and FREEZE. Please note on form if any blood was present.
Frozen 14 days
AA (Quantitative)
Glycine CSF (Quantitative)
Glycine CSF (Quantitative)
Phenyalanine CSF Quantitative
Tyrosine CSF Quantitative
Tyrosine CSF Quantitative
aminoacids
14 days
4888