Enzyme Replacement Therapy: A Review and Its Role in Treating Lysosomal Storage Diseases

Lysosomal storage diseases (LSDs) are a heterogeneous group of genetic disorders caused by defects in lysosomal function that lead to multiorgan system damage. Due to wide clinical variability within even a single disorder, making a diagnosis can be difficult and identification may be delayed. Enzyme replacement therapy (ERT) was first approved as a treatment for the LSD Gaucher disease in 1991. ERT development for other LSDs followed, and ERT is currently approved for eight LSDs in the United States. ERT may help slow progression and improve clinical symptoms, but it cannot affect neurologic features due to its inability to cross the blood-brain barrier. Additional therapies for LSDs that have been investigated include stem cell transplants, gene therapy, small molecule approaches, and genome editing. Although newer approaches seem promising, there is no "cure" for any LSDs, and management remains focused on early diagnosis and treatment. [Pediatr Ann. 2018;47(5):e191-e197.].