Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome)Symptoms, Doctors, Treatments, Advances & More
Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome) Overview
Learn About Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome)
View Main Condition: Mucopolysaccharidoses (MPS)
Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a disorder that primarily affects the brain and spinal cord (central nervous system). It is characterized by deterioration of neurological function (neurodegeneration), resulting in many of the features of the condition. Other body systems can also be involved, although the physical features are usually mild in the early stages.
Variants (also called mutations) in the GNS, HGSNAT, NAGLU, and SGSH genes cause MPS III. These genes provide instructions for making enzymes involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. The GNS, HGSNAT, NAGLU, and SGSH enzymes are involved in the step-wise breakdown of a subset of GAGs called heparan sulfate.
MPS III is the most common form of mucopolysaccharidosis; the estimated incidence of all four types combined is 1 in 70,000 newborns. MPS IIIA and MPS IIIB are much more common than MPS IIIC and MPS IIID.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Kristen Truxal is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Lima, Ohio. Dr. Truxal is rated as an Elite provider by MediFind in the treatment of Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome). She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome), Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A), Mucopolysaccharidoses (MPS), and Mucopolysaccharidosis Type 3B (MPS IIIB, Sanfilippo Syndrome B). Dr. Truxal is board certified in American Board Of Pediatrics. Dr. Truxal is currently accepting new patients.
Washington University Physicians In Illinois Inc
Patricia Dickson is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Belleville, Illinois. Dr. Dickson is rated as an Elite provider by MediFind in the treatment of Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome). She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome), and Mucopolysaccharidosis Type 3B (MPS IIIB, Sanfilippo Syndrome B). Dr. Dickson is currently accepting new patients.
Brian Bigger practices practicing medicine in Edinburgh, United Kingdom. Mr. Bigger is rated as an Elite expert by MediFind in the treatment of Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome). He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome), Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A), Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), and Bone Marrow Transplant.
Summary: The goal of this clinical trial is to test cannabidiol in Sanfilippo syndrome. The main questions it aims to answer are: 1) determine the safety of cannabidiol in Sanfilippo syndrome, and 2) explore the efficacy of cannabidiol in treating the neurobehavioral symptoms and functional outcomes of Sanfilippo syndrome. Each participant's caregiver will be asked to complete surveys related to the partic...
Summary: The main objective of this study is to evaluate the efficacy and safety of UX111 for the treatment of MPS IIIA.
Published Date: November 07, 2022
Published By: National Institutes of Health
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