Treatable Intellectual Disability

Sanfilippo Syndrome D (MPS IIId)

DIAGNOSIS

Gene
GNS (AR)

Diagnostic Test
Urine Glycosaminoglycans

Stacks Image 203

SIGNS & SYMPTOMS

Neurological
Dementia, autism, behavioral disturbances

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

Stacks Image 204

THERAPY

Treatment
Haematopoietic Stemcell Transplantation

Level of Evidence
4-5

Clinical Practice
Individual Basis

Treatment Effect
Stabilizes clinical deterioration



Stacks Image 205
Stacks Image 9346

Sanfilippo Syndrome D (MPS IIID)

Mucopolysaccharidosis type IIID (MPS IIID) 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 IIID live into their teenage years, and some live longer.

No information available from this source.

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