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Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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Simplified newborn screening protocol for lysosomal storage disorders.

Thomas F Metz1, Thomas P Mechtler, Joseph J Orsini

  • 1Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.

Clinical Chemistry
|July 21, 2011
PubMed
Summary
This summary is machine-generated.

A new high-throughput assay simplifies lysosomal storage disorder testing for newborns. This method significantly reduces analysis time and costs, enabling nationwide screening programs.

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Area of Science:

  • Biochemistry
  • Mass Spectrometry
  • Newborn Screening

Background:

  • Lysosomal storage disorders (LSDs) are a group of over 40 inherited metabolic diseases.
  • Advances in therapies like enzyme replacement and stem cell transplantation have increased interest in LSDs.
  • Existing assays face challenges with complex sample preparation and substrate interference.

Purpose of the Study:

  • To develop a high-throughput protocol for quantifying multiple lysosomal enzyme activities.
  • To simplify sample preparation and reduce interference in LSD testing.
  • To enable efficient and accurate LSD screening in a large population.

Main Methods:

  • A multiplexed, multidimensional ultra-HPLC-tandem mass spectrometry assay was developed.
  • Dried blood spots were incubated with substrates and internal standards.
  • Online sample cleanup using Turbo Flow and an additional analytical column eliminated offline preparation.

Main Results:

  • The assay quantified 6 lysosomal enzyme activities for 6 LSDs.
  • Offline sample preparation was eliminated, saving ~70% analytical time and ~50% reagent costs.
  • A pilot study of 8586 newborns showed 100% diagnostic sensitivity and high specificity, with Krabbe disease results validated.

Conclusions:

  • Online sample cleanup and an additional analytical column facilitate LSD testing implementation.
  • The method allows for total analysis time under 2 minutes per sample.
  • This approach supports the integration of LSD testing into nationwide screening programs.