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
Units: 
umol/L
Department: 
Biochemical Sciences Department
Location: 
St Thomas' Hospital
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:
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory: 
Inherited Metabolic Disease Laboratory at St Thomas'

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Last updated: 07/08/2015