Learn About Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome)
View Main Condition: Mucopolysaccharidoses (MPS)
Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge, become inflamed or scarred, and eventually waste away (atrophy). Skeletal abnormalities are also common in this condition. The rate at which symptoms worsen varies among affected individuals.
Mutations in the ARSB gene cause MPS VI. The ARSB gene provides instructions for producing an enzyme called arylsulfatase B (also known as N-acetylgalactosamine-4-sulfatase), which is 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 incidence of MPS VI is unknown, although it is estimated to occur in 1 in 250,000 to 600,000 newborns.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
UCSF Benioff Children's Hospital Gastroenterology Clinic
Paul Harmatz is a Gastroenterologist and a Pediatric Gastroenterologist in Oakland, CA. Dr. Harmatz and is rated as an Elite provider by MediFind in the treatment of Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome). His top areas of expertise are Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), and Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome).
Lynda Polgreen is a Pediatric Endocrinologist and a Pediatrics provider in Orange, California. Dr. Polgreen and is rated as a Distinguished provider by MediFind in the treatment of Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome). Her top areas of expertise are Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Osteopetrosis, Mucopolysaccharidoses (MPS), Osteosclerosis Autosomal Dominant, and Osteotomy.
CHOC Clinic
Raymond Wang is a Pediatrics specialist and a Medical Genetics provider in Orange, California. Dr. Wang and is rated as an Advanced provider by MediFind in the treatment of Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome). His top areas of expertise are Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), and Pompe Disease.
Summary: Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a pane...
Summary: The goal of this observational study is to characterize the epidemiology and natural history of MPS diseases by building a retrospective and prospective collection of extensive phenotypic data from French MPS patients.
Published Date: June 28, 2021
Published By: National Institutes of Health