Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome)Symptoms, Doctors, Treatments, Advances & More
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 Oakland
Paul Harmatz is a Pediatric Gastroenterologist practicing medicine in Oakland, California. Dr. Harmatz is rated as an Elite provider by MediFind in the treatment of Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome). He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses 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). Dr. Harmatz is board certified in American Board Of Pediatrics.
Rita Ferla practices practicing medicine in Naples, Italy. Ms. Ferla is rated as an Elite expert by MediFind in the treatment of Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome). She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), Mucopolysaccharidoses (MPS), Retinopathy Pigmentary Mental Retardation, and Late-Onset Retinal Degeneration.
Alberto Auricchio practices practicing medicine in Naples, Italy. Mr. Auricchio is rated as an Elite expert by MediFind in the treatment of Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome). He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), Gyrate Atrophy of the Choroid and Retina, Retinopathy Pigmentary Mental Retardation, and Usher Syndrome.
Summary: This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with LSDs.
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