Abstract
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.
Highlights
Lysosomes are membrane-bound organelles, which contain, among other components, hydrolytic enzymes that operate in an acidic environment (Sabatini and Adesnik, 2014)
Since there are many lysosomal disorders that do not result from lysosomal enzyme deficiencies detected by clinically available tests, molecular testing must be considered as an important tool for the diagnosis of Lysosomal diseases (LDs)
They account for less than 1% of hereditary diseases, LDs have gained significance exceeding this proportion by concentrating a large number of successful examples of treatments for genetic conditions
Summary
Lysosomes are membrane-bound organelles, which contain, among other components, hydrolytic enzymes that operate in an acidic environment (Sabatini and Adesnik, 2014). This method allows the determination of urinary levels of these biomarkers and facilitates diagnosis for patients with MPS I, II, III, IVA, and VI, as well as other lysosomal storage disorders.
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