
Sanfilippo syndrome - Wikipedia
Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare lifelong genetic disease that mainly affects the brain and spinal cord. It is caused by a problem with how the body breaks down certain large sugar molecules called glycosaminoglycans (also known as GAGs or mucopolysaccharides).
Mucopolysaccharidosis type 3 | About the Disease | GARD
Mucopolysaccharidosis type III (MPS III) is a genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate.
Mucopolysaccharidosis type III: MedlinePlus Genetics
Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a disorder that primarily affects the central nervous system. Explore symptoms, inheritance, genetics of this condition.
Mucopolysaccharidosis Type III | Sanfilippo Syndrome | NORD
Jan 23, 2024 · Learn about Mucopolysaccharidosis Type III, including symptoms, causes, and treatments. If you or a loved one is affected by this condition, visit NORD to.
Mucopolysaccharidosis Type III - GeneReviews® - NCBI Bookshelf
Sep 19, 2019 · Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances.
Sanfilippo Syndrome - Boston Children's Hospital
Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare, inherited disorder. Sanfilippo syndrome is classified as a lysosomal storage disorder (LSD). In these disorders, genetic variations disrupt the normal activity of lysosomes in human cells.
Mucopolysaccharidoses - National Institute of Neurological …
Jul 19, 2024 · Mucopolysaccharidoses (MPS) are a group of rare inherited metabolic diseases. There are many different types of MPS which present a variety of physical and neurological symptoms. Glycosaminoglycans, also known as mucopolysaccharides, are long chains of sugars (carbohydrates) in our cells.
Sanfilippo syndrome: Cause, symptoms, and treatments
Oct 12, 2021 · Sanfilippo syndrome, or mucopolysaccharidosis type III (MPS III), is a rare neurodegenerative disease that first appears in early childhood.
Orphanet: Mucopolysaccharidosis type 3
A group of rare lysosomal storage diseases characterized by progressive neurocognitive decline, loss of functional abilities and premature death. There are four etiological subtypes of mucopolysaccharidosis type 3 (MPS III, Sanfilippo syndrome) called Sanfilippo syndrome type …
MPS III - National MPS Society
MPS III is a mucopolysaccharide disease also known as Sanfilippo syndrome. It takes its name from Dr. Sylvester Sanfilippo, one of the U.S. doctors who described the condition in 1963.
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