Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome)Symptoms, Doctors, Treatments, Advances & More
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.
M Health Fairview Explorer Pediatric Specialty Clinic
Chester Whitley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Minneapolis, Minnesota. Dr. Whitley is rated as an Elite provider by MediFind in the treatment of Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome). He is also highly rated in 33 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A), and Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome). Dr. Whitley is board certified in Clinical Genetics And Genomics: American Board Of Medical Genetics And Genomics, 1984 and Clinical Biochemical Genetics: American Board Of Medical Genetics And Genomics, 1984. Dr. Whitley is currently accepting new patients.
Washington University
Patricia Dickson is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Saint Louis, Missouri. 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 main objective of this study is to evaluate the efficacy and safety of UX111 for the treatment of MPS IIIA.
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...
Published Date: November 07, 2022
Published By: National Institutes of Health