Treatable Intellectual Disability

Sanfilippo Syndrome B (MPS IIIb)

BIOCHEMICAL DEFECT

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DIAGNOSIS

Gene
NAGLU (AR)

Diagnostic Test
Urine Glycosaminoglycans

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SIGNS & SYMPTOMS

Neurological
Dementia, autism, behavioral disturbances

Non-Neurological
Dysmorphisms, diarrhea, hepato(-spleno)megaly, dysostoses

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THERAPY

Treatment
Haematopoietic Stemcell Transplantation

Level of Evidence
4-5

Clinical Practice
Individual Basis

Treatment Effect
Stabilizes clinical deterioration



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Sanfilippo Syndrome B

Sanfilippo Syndrome B (MPS IIIB)

Mucopolysaccharidosis type IIIB (MPS IIIB) 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. 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. Most people with MPS IIIB live into their teenage years, and some live longer. (Source: Genetic and Rare Disease Information Center)

No information available from this source.

This disease is not (yet) listed on their website.