Sanfilippo Syndrome: Symptoms, Therapies and the Search for a Cure

Authors

Elisheva Garfinkel

Abstract

Sanfilippo syndrome, also named Mucopolysaccharidosis III (MPS) is an uncommon disorder that develops due to abnormalities in the nervous system and brain. Aspects of this condition include losing motor and mental function beginning at just a few months old. Four different proteins are involved in the breakdown of Heparin Sulfate (HS) in the extracellular matrix. “When one of these proteins is missing or inadequate, Mucopolysaccharidosis III (MPS), can result (“Sanfilippo Syndrome”, 2019) The specific protein that is insufficient will determine which of the four corresponding forms of Sanfilippo syndrome is present. “All variations of Sanfilippo Syndrome are easily identified by a variety of somatic symptoms accompanying the progressive deterioration of the Central Nervous System (CNS), all of which will be described further in this research paper. The goal of this study is to investigate the progress made to find a remedy for this devastating disorder, as well as to discuss the symptoms and pathology of the condition. Although there is currently no cure for Sanfilippo Syndrome, several researchers have observed that there may be some hope in symptom management and therapy. “Particularly, treatment may include Substrate Reduction Therapy (SRT), Enzyme Replacement Therapy (ERT), and gene therapy. “ As of late, the biggest obstacle that scientists must circumvent while searching for a cure is the blood-brain barrier, which can block treatments from passing between the Central Nervous System and the blood. In the research paper below we will more deeply examine the various characteristics of the disease and current treatment options.

Recommended Citation

Elisheva Garfinkel. (2023). Sanfilippo Syndrome: Symptoms, Therapies and the Search for a Cure. The Science Journal of the Lander College of Arts and Sciences, 16(2), 19-22. Retrieved from https://touroscholar.touro.edu/sjlcas/vol16/iss2/4