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LIAO, Hsuan-Chieh, Zdeněk SPÁČIL, Farideh GHOMASHCHI, Maria L. ESCOLAR, Joanne KURTZBERG, Joseph J. ORSINI, Frantisek TURECEK, C. Ronald SCOTT and Michael H. GELB. Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease. Clinical Chemistry. Washington, USA: AMER ASSOC CLINICAL CHEMISTRY, 2017, vol. 63, No 8, p. 1363-1369. ISSN 0009-9147. Available from:
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Basic information
Original name Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease
Authors LIAO, Hsuan-Chieh (158 Taiwan), Zdeněk SPÁČIL (203 Czech Republic, guarantor, belonging to the institution), Farideh GHOMASHCHI (840 United States of America), Maria L. ESCOLAR (840 United States of America), Joanne KURTZBERG (840 United States of America), Joseph J. ORSINI (840 United States of America), Frantisek TURECEK (203 Czech Republic), C. Ronald SCOTT (840 United States of America) and Michael H. GELB (840 United States of America).
Edition Clinical Chemistry, Washington, USA, AMER ASSOC CLINICAL CHEMISTRY, 2017, 0009-9147.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 20602 Medical laboratory technology ;
Country of publisher United States of America
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 8.636
RIV identification code RIV/00216224:14310/17:00097720
Organization unit Faculty of Science
UT WoS 000406417600010
Tags NZ, rivok
Tags International impact, Reviewed
Changed by Changed by: Ing. Nicole Zrilić, učo 240776. Changed: 6/4/2018 15:30.
BACKGROUND: Deficiency of the lysosomal enzyme galactosylcerebrosidase (GALC) causes Krabbe disease. Newborn screening for Krabbe disease is ongoing, but improved methods for follow-up analysis of screen-positive babies are needed to better advise families and to optimize treatment. We report a new assay for the enzymatic activity of GALC in lymphocytes. METHODS: T lymphocytes were isolated from venous blood by magnetic bead technology. The assay used a close structural analog of the natural substrate and LC-MS/MS to quantify the amount of product with the aid of a chemically identical internal standard. RESULTS: The analytical range of the assay (ratio of assay response for the QC high standard to that from all non-enzymatic-dependent processes) was 20-fold greater than that for the conventional radiometric GALC assay. The LC-MS/MS could distinguish cells that were null in GALC from those that contained traces of active enzyme (down to 0.3% of normal). There was a good correlation between the level of residual GALC activity in lymphocytes and the severity of Krabbe disease. CONCLUSIONS: The new assay can measure small amounts of residual GALC activity in leukocytes with high accuracy compared to previous assays and can contribute, along with genotyping, biomarker analysis, and neurological imaging, a better plan for post-newborn screening follow-up for Krabbe disease.
Displayed: 22/6/2024 01:25