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.
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.
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 Biochemical Genetics: American Board Of Medical Genetics And Genomics, 1984 and Clinical Genetics And Genomics: 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.
Summary: The main objective of this study is to evaluate the efficacy and safety of UX111 for the treatment of MPS IIIA.
Summary: This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young adults with MPS IIIC.
Published Date: November 07, 2022
Published By: National Institutes of Health