Practical and reliable enzyme test for the detection of Mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples.

Author(s): Camelier MV, Burin MG, De Mari J, Vieira TA, Marasca G, Giugliani R

Publication: Clin Chim Acta, 2011, Vol. 412, Page 1805-8

PubMed ID: 21684269 PubMed Review Paper? No

Purpose of Paper

Conclusion of Paper

Studies

1. Study Purpose

   The purpose of this study was to determine the effects of assaying DBS versus leukocytes for GALNS by a fluorometric method using specimens from MPS IVA patients and healthy volunteers. In addition, the effects of different DBS storage temperatures and durations on the GALNS assay were evaluated. Leukocytes were separated from heparinized blood and stored at -20 degrees C while dried blood spots were stored at 4 degrees C until analysis.

   Summary of Findings:

   As expected, significant differences in GALNS activity were observed between MPS IVA patients and normal controls, but none were observed between leukocytes and DBS. GALNS activity was stable in DBS stored at 4 degrees C for up to 30 days while significantly decreased activity was measured in DBS stored at 22 or 37 degrees C for any amount of time except 7 days at 22 degrees C. With longer incubation times for DBS than for leukocytes, GALNS activity was detected in all specimens.

   Biospecimens

   • Bodily Fluid - Blood
   • Cell - White Cells

   Preservative Types

   • Frozen
   • Other Preservative

   Diagnoses:

   • Normal
   • Other diagnoses

   Platform:

   Analyte	Technology Platform
   Protein	Fluorometry

   Pre-analytical Factors:

   Classification	Pre-analytical Factor	Value(s)
   Biospecimen Preservation	Type of fixation/preservation	Air-dried Frozen
   Biospecimen Aliquots and Components	Blood and blood products	Leukocyte Whole blood
   Preaquisition	Diagnosis/ patient condition	Mucopolysaccharidosis type IVA
   Storage	Storage temperature	4 degrees C 22 degrees C 37 degrees C
   Storage	Storage duration	7 d 14 d 30 d

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