Trusted Resources: Education
Scientific literature and patient education texts
Understanding Mucopolysaccharidosis Type VII (MPS VII) or Sly Syndrome
source: Ultragenyx Pharmaceutical Inc.
year: N/A
summary/abstract:MPS VII, also called Sly syndrome, is a rare, life-threatening lysosomal storage disorder, caused by mutations of the GUSB gene, which results in a deficiency of the β-glucuronidase enzyme. β-glucuronidase plays a key role in the breakdown of glycosaminoglycans (GAGs), previously called mucopolysaccharides. The inability to properly break down GAGs causes them to build up in the lysosomes.
Signs and symptoms of MPS VII generally become more severe. Hip dysplasia and worsening pulmonary function are two of the progressive symptoms commonly observed in patients with MPS VII. In some cases, people with MPS VII may develop new signs and symptoms, which may also progress. It is important to recognize the signs and symptoms of MPS VII. Early and accurate diagnosis and management may help to slow disease progression.
read more
BookmarkRelated Content
-
Natalia Gomez-Ospina, MD, PhDNatalia Gomez-Ospina is an Assistant Pro...
-
Bone Biomarkers in MucopolysaccharidosesThe accumulation of glycosaminoglycans (...
-
Is It Hunter’s Syndromehttps://www.onempsvoice.com/wp-content/u...
-
Hurler Syndrome Treatment Market Research Prophesied to Grow at a Faster Pace By 2026This Hurler Syndrome Treatment market re...
-
Enzyme Replacement Therapy With Galsulfase for Mucopolysaccharidosis Type VIMucopolysaccharidosis type VI (MPS VI) o...
-
AVROBIO Receives Rare Pediatric Disease Designation from the U.S. FDA for AVR-RD-05, a Gene Therapy for Mucopolysacc...AVROBIO, Inc., a leading clinical-stage ...
-
Barbara K. Burton, MDBarbara K Burton, MD is the Professor of...
Powered by
