Mucopolysaccharidosis type III
GPTKB entity
Properties (60)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
Mucopolysaccharidosis
|
| gptkbp:associatedWith |
anxiety
cognitive decline depression fatigue aggression chronic pain seizures social challenges vision problems respiratory problems muscle weakness aggressive behavior emotional issues social withdrawal neurodegeneration short stature autism spectrum disorder learning difficulties gastrointestinal issues dental issues skin issues cardiac issues skeletal abnormalities hyperactivity loss of skills hepatosplenomegaly self-injurious behavior endocrine issues impaired mobility increased infections pain management issues urinary problems |
| gptkbp:causedBy |
deficiency of the enzyme N-sulfoglucosamine sulfohydrolase
|
| gptkbp:demographics |
1 in 100,000 live births
|
| gptkbp:diseaseResistance |
genetic testing
clinical evaluation enzyme activity test |
| https://www.w3.org/2000/01/rdf-schema#label |
Mucopolysaccharidosis type III
|
| gptkbp:impact |
supportive care
symptomatic treatment enzyme replacement therapy |
| gptkbp:introduced |
in 1970
|
| gptkbp:legalEvent |
varies by subtype
|
| gptkbp:nobleFamily |
autosomal recessive
|
| gptkbp:populationTrend |
children
|
| gptkbp:previouslyKnownAs |
Sanfilippo syndrome
|
| gptkbp:researchFocus |
gene therapy
enzyme replacement therapy symptomatic treatments |
| gptkbp:subclass |
Sanfilippo A
Sanfilippo B Sanfilippo C Sanfilippo D |
| gptkbp:symptoms |
sleep disturbances
hearing loss behavioral problems joint stiffness developmental delay facial features changes |