Send to:

Choose Destination
See comment in PubMed Commons below
Anal Biochem. 2003 May 15;316(2):175-80.

Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution-electrospray ionization tandem mass spectrometry.

Author information

  • 1Biochemical Genetics Laboratory, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, P.O. Box 14991, 99 TW Alexander Drive, Research Triangle Park, NC 27709, USA.


Patients with glycogen storage disease type II (GSD II) typically excrete increased amounts of a glycogen-derived glucose tetrasaccharide, Glcalpha1-6Glcalpha1-4Glcalpha1-4Glc (Glc(4)), in the urine. With the advent of a new enzyme replacement therapy for GSD II, there is a need for early identification of patients with this disease and for monitoring the efficacy of treatment. Glc(4) is a good candidate biomarker for GSD II. A simple and robust method using stable isotope dilution-electrospray ionization-tandem mass spectrometry for the analysis of Glc(4) in biological samples was developed. A 13C(6)-labeled stable isotope internal standard was synthesized by transglycosylation using a recombinant alpha-amylase. Butyl 4-aminobenzoate derivatives of Glc(4) and the internal standard were analyzed using multiple reaction monitoring. This method was shown to be accurate and precise by the repeated analysis of calibrators and quality control samples in urine and plasma. There was good agreement with a high-performance liquid chromatography-UV method for urine samples, whereas there was less agreement with plasma samples. Accurate determination from dried urine spot samples was also demonstrated. This method is amenable to high-throughput analysis, a necessary prerequisite for mass screening for GSD II.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk