Learn About Mucopolysaccharidosis Type 3B (MPS IIIB, Sanfilippo Syndrome B)

View Main Condition: Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome)

What is the definition of Mucopolysaccharidosis Type 3B (MPS IIIB, Sanfilippo Syndrome B)?
Mucopolysaccharidosis type IIIB (MPS IIIB) is an 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. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIIB is caused by alterations in the NAGLU gene. This gene provides the instructions for producing an enzyme called N-alpha-acetylglucosaminidase, which is needed to completely break down heparan sulfate. MPS IIIB is inherited in an autosomal recessive manner.
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What are the alternative names for Mucopolysaccharidosis Type 3B (MPS IIIB, Sanfilippo Syndrome B)?
  • Mucopolysaccharidosis type IIIB
  • MPS 3B
  • MPS IIIB
  • Mucopoly-saccharidosis type 3B
  • N-acetyl-alpha-d-glucosaminidase deficiency
  • Sanfilippo syndrome B
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What are the latest Mucopolysaccharidosis Type 3B (MPS IIIB, Sanfilippo Syndrome B) Clinical Trials?
A Multicenter, Multinational, Extension Study to Evaluate the Long Term Safety and Efficacy of Intracerebroventricular AX 250 in Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B)

Summary: The primary objectives of this study are to evaluate the long-term safety and tolerability of AX 250 administered to subjects with MPS IIIB by an implanted ICV reservoir and catheter and to evaluate the impact of long-term AX 250 treatment on cognitive function in patients with MPS IIIB as assessed by developmental quotient (DQ).

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A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)

Summary: This is a natural history study for children up to 18 years of age who have been diagnosed with Mucopolysaccharidosis Type IIIB (MPS IIIB, also known as Sanfilippo Syndrome Type B). Mucopolysaccharidosis type IIIB is a severe neurodegenerative disorder. The information gathered from this trial may help inform the design and interpretation of subsequent interventional studies. No clinical intervent...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Mucopolysaccharidosis Type 3B (MPS IIIB, Sanfilippo Syndrome B)?
Intestinal lymphangiectasia in a patient with Sanfilippo B syndrome.
Cases of inborn errors of metabolism diagnosed in children with autism.
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MUCOPOLYSACARIDOSIS TYPE IIIB MISDIAGNOSED AS AN AUTISTIC SPECTRUM DISORDER: A CASE REPORT AND LITERATURE REVIEW.