Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome)Symptoms, Doctors, Treatments, Advances & More
Learn About Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome)
View Main Condition: Mucopolysaccharidoses (MPS)
Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a progressive condition that affects most tissues and organs. The severity of MPS VII varies widely among affected individuals.
Mutations in the GUSB gene cause MPS VII. This gene provides instructions for producing the beta-glucuronidase (β-glucuronidase) enzyme, 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. Mutations in the GUSB gene reduce or completely eliminate the function of β-glucuronidase. The shortage (deficiency) of β-glucuronidase leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions such as MPS VII that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. Researchers believe that the GAGs may also interfere with the functions of other proteins inside the lysosomes and disrupt many normal functions of cells.
The exact incidence of MPS VII is unknown, although it is estimated to occur in 1 in 250,000 newborns. It is one of the rarest types of mucopolysaccharidosis.
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.
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 7 (MPS VII, Sly 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.
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 7 (MPS VII, Sly 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.
Children's Hospital Pediatric Associates, Inc
Deborah Marsden is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Marsden is rated as an Elite provider by MediFind in the treatment of Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome). She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidoses (MPS), Hydrops Fetalis, and Fetal Edema. Dr. Marsden is currently accepting new patients.
Summary: The objectives of this study are to characterize MPS VII disease presentation and progression and assess long-term effectiveness and safety, including hypersensitivity reactions and immunogenicity of vestronidase alfa.
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.
Published Date: August 01, 2010
Published By: National Institutes of Health