GC/MS determination of guanidinoacetate and creatine in urine: A routine method for creatine deficiency syndrome diagnosis.
OBJECTIVE
To further facilitate the diagnosis of creatine deficiency syndromes (CDS) a modified method was developed for the quantification of urinary creatine and guanidinoacetoacetate using gas chromatography/mass spectrometry (GC/MS) and having the additional advantage of using the same derivatizing agents, column and equipment usually used for the diagnosis of the organic acidurias in the clinical biochemistry laboratories.


METHODS
Guanidinoacetic acid, creatine standard solutions and pooled urines and pathological samples were used to validate a new and simple GC/MS technique modified from reported methods; its accuracy was assessed by comparing with liquid chromatography-electrospray tandem mass spectrometry (HPLC-MS/MS) method.


RESULTS
The method is precise: intra assay and inter assay variability for low and high concentrations were 3%, 6.4%/1.4%, 6.9% for creatine and 1.4%, 6.4%/0.9%, 6.9% for guanidinoacetoacetate. Agreement with HPLC/MS-MS method is good.


CONCLUSIONS
The GC/MS modified method is fast, reliable and practical for the diagnosis of CDS using the same means as those for organic acidurias diagnosis.
Nasrallah
Fahmi
F
Laboratory of Biochemistry, Rabta Hospital, 1007 Jebbari, Tunis, Tunisia.
Feki
Moncef
M
Briand
Gilbert
G
Kaabachi
Naziha
N
D000293:Adolescent; D000328:Adult; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis* / Q000652:urine*; D002138:Calibration; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D003401:Creatine / Q000172:deficiency* / Q000652:urine*; D003955:Diagnostic Tests, Routine / Q000379:methods*; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods*; D005998:Glycine / Q000031:analogs & derivatives* / Q000652:urine; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D057230:Limit of Detection; D008297:Male; D012016:Reference Values; D013577:Syndrome; D053719:Tandem Mass Spectrometry; D055815:Young Adult
C004946:glycocyamine; D003401:Creatine; D005998:Glycine