Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport
LS Almeida, NM Verhoeven, B Roos, C Valongo… - Molecular genetics and …, 2004 - Elsevier
In this study, measurements of guanidinoacetate (GAA) and creatine (Cr) in urine, plasma,
and cerebrospinal fluid (CSF) were performed using stable isotope dilution gas
chromatography–mass spectrometry. Both compounds were analyzed in a single analysis.
Reference values were established for GAA and Cr. These values were age dependent. No
differences with gender were observed. Eight guanidinoacetate methyltransferase (GAMT)
deficient patients and eight creatine transporter SLC6A8 deficient patients were …
and cerebrospinal fluid (CSF) were performed using stable isotope dilution gas
chromatography–mass spectrometry. Both compounds were analyzed in a single analysis.
Reference values were established for GAA and Cr. These values were age dependent. No
differences with gender were observed. Eight guanidinoacetate methyltransferase (GAMT)
deficient patients and eight creatine transporter SLC6A8 deficient patients were …