CSF amino acids - including glycine and serine

Description: 
Analysis by ion-exchange chromatography, post column derivitisation with ninhydrin and photometric detection
Clinical details: 
CSF amino acids may be requested as part of the investigation of severe onset, intractable seizures or congenital microcephaly
Related condition or disease: 
Glycine encephalopathy, 3-phosphoglycerate dehydrogenase deficiency, 3-phosphoserine phosphatase deficiency, phosphoserine amino transferase deficiency and disorders of vitamin B6 metabolism
Reference range: 

Please contact laboratory to discuss

Synonyms or keywords: 
CSF, Amino acids, Metabolic, CAA
Units: 
umol/L
Department: 
Biochemical Sciences Department
Location: 
Blackfriars Hub
Sample type and Volume required: 
CSF (plain universal). Minimum sample volume 500 uL CSF.
Call in advance: 
Discuss with laboratory to arrange urgent analysis
Turnaround time: 
2 weeks
Criteria for acceptance / rejections of sample
Storage and transport: 
A paired plasma amino acid sample required. Store frozen but sample can be sent via 1st class post.
Contacts:
Inherited Metabolic Diseases Unit at Blackfriars Hub
07592 502653
Reference Chemistry, 1st Floor Blackfriars Hub
Friars Bridge Court
Blackfriars Road
London
SE1 8NZ
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory: 
Reference Chemistry at the Blackfriar's Hub

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Last updated: 17/12/2025