Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

ACMG Laboratory Quality Assurance Committee

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

Assays that measure lysosomal enzyme activity are important tools for the screening and diagnosis of lysosomal storage disorders (LSDs). They are often ordered in combination with urine oligosaccharide and glycosaminoglycan analysis, additional biomarker assays, and/or DNA sequencing when an LSD is suspected. Enzyme testing in whole blood/leukocytes, serum/plasma, cultured fibroblasts, or dried blood spots demonstrating deficient enzyme activity remains a key component of LSD diagnosis and is often prompted by characteristic clinical findings, abnormal newborn screening, abnormal biochemical findings (eg, elevated glycosaminoglycans), or molecular results indicating pathogenic variants or variants of uncertain significance in a gene associated with an LSD. This document, which focuses on clinical enzyme testing for LSDs, provides a resource for laboratories to develop and implement clinical testing, to describe variables that can influence test performance and interpretation of results, and to delineate situations for which follow-up molecular testing is warranted.

Original languageEnglish
Pages (from-to)769-783
Number of pages15
JournalGenetics in Medicine
Volume24
Issue number4
DOIs
StatePublished - Apr 2022

Keywords

  • Enzyme assays
  • Lysosomal enzymes
  • Lysosomal storage disorders
  • Mucopolysaccharidosis
  • Sphingolipidoses

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