Amino Acids, CSF
150 µL of clear CSF
Freeze (-20 C) sample ASAP if sample is clear and free of red cells. If sample is contaminated with red cells, spin down and transfer the clear supernatant to a clean tube or vial before freezing. Ship sample frozen on dry ice
Sample must be frozen after collection.
For nonketotic hyperglycinemia (NKH), plasma/serum sample should accompany CSF sample and both tests requested on form.
Absence of plasma/serum measurement decreases the predictive value of CSF glycine for NKH.
Cerebral amino acidopathies, particularly defects affecting the glycine cleavage enzyme (nonketotic hyperglycinemia) and serine deficiency.
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