Mucopolysaccharidoses (MPS) Overview
Learn About Mucopolysaccharidoses (MPS)
Mucopolysaccharidoses (MPSs) are a group of rare diseases in which the body is missing or does not have enough of an enzyme needed to break down long chains of sugar molecules. These chains of molecules are called glycosaminoglycans (formerly called mucopolysaccharides). As a result, the molecules build up in different parts of the body and cause various health problems. There are several types of MPSs, including:
- MPS I (Hurler syndrome; Hurler-Scheie syndrome; Scheie syndrome)
- MPS II (Hunter syndrome)
- MPS III (Sanfilippo syndrome)
- MPS IV (Morquio syndrome)
MPS; Lysosomal storage disease - mucopolysaccharidosis
Baystate Medical Practices Inc
Mary-alice Abbott is a Medical Genetics specialist and a Pediatrics provider in Springfield, Massachusetts. Dr. Abbott and is rated as an Advanced provider by MediFind in the treatment of Mucopolysaccharidoses (MPS). Her top areas of expertise are Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Pompe Disease, Mucopolysaccharidoses (MPS), and Danon Disease.
Columbia Memorial Hospital
Umesh Patel is a Rheumatologist in Hudson, New York. Dr. Patel and is rated as an Experienced provider by MediFind in the treatment of Mucopolysaccharidoses (MPS). His top areas of expertise are Rheumatoid Arthritis (RA), Neuroretinitis, Generalized Pustular Psoriasis (GPP), and Cicatricial Pemphigoid.
Longwood Eye LLC
Vamsee Neerukonda is an Ophthalmologist in West Springfield, Massachusetts. Dr. Neerukonda has been practicing medicine for over 9 years and is rated as an Experienced provider by MediFind in the treatment of Mucopolysaccharidoses (MPS). His top areas of expertise are Pinguecula, Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Uveitis, and Dacryoadenitis. Dr. Neerukonda is currently accepting new patients.
Summary: A first-in-human study using ISP-001 in adult patients with Mucopolysaccharidosis Type I Hurler-Scheie and Scheie.
Summary: A multi-center randomized clinical trial to compare OTL-203 (gene therapy) with stem cell transplant (standard of care) in patients with MPS-IH (Hurler syndrome).
Published Date: April 24, 2023
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Pyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 239.
Spranger JW. Mucopolysaccharidoses. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 107.
Turnpenny PD, Ellard S, Cleaver R. Inborn errors of metabolism. In: Turnpenny PD, Ellard S, Cleaver R, eds. Emery's Elements of Medical Genetics and Genomics. 16th ed. Philadelphia, PA: Elsevier; 2022:chap 18.