In Canavan disease a deficiency of aspartoacylase leads to accumulation of N-acetyl-aspartic acid in urine, blood and cerebrospinal fluid. Prenatal diagnosis of the disease is possible via quantification of the acid in amniotic fluid.
- N-[2H3]acetylaspartic acid
Synthesis and application
C Jakobs, HJ ten Brink, SA Langelaar, T Zee, F Stellaard, M Macek, K Srsnová, S Srsen, WJ Kleijer. Stable isotope dilution analysis of N-acetylaspartic acid in CSF, blood, urine and amniotic fluid: accurate postnatal diagnosis and the potential for prenatal diagnosis of Canavan disease. J Inher Metab Dis 14.