Lysosomal diseases: Overview on current diagnosis and treatment

Fabianodeoliveira Poswar, Filippo Vairo, Maira Burin, Kristiane Michelin-Tirelli, Anacarolina Brusius-Facchin, Francyne Kubaski, Carolinafischingermoura Desouza, Guilherme Baldo, Roberto Giugliani

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases, membrane- associated transporters or other non-enzymatic proteins. Interest in the LD field is growing each year, as more conditions are, or will soon be treatable. In this article, we review the diagnosis of LDs, from clinical suspicion and screening tests to the identification of enzyme or protein deficiencies and molecular genetic diagnosis. We also cover the treatment approaches that are currently available or in development, including hematopoietic stem cell transplantation, enzyme replacement therapy, small molecules, and gene therapy.

Original languageEnglish (US)
Pages (from-to)165-177
Number of pages13
JournalGenetics and Molecular Biology
Issue number1
StatePublished - 2019


  • Enzyme replacement therapy
  • Gene therapy
  • Hematopoietic stem cell transplantation
  • Lysosomal storage diseases
  • Neonatal screening

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics


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