What genes cause MPS III?
What genes cause MPS III?
Mutations in the GNS, HGSNAT, NAGLU, and SGSH genes cause MPS III. These genes provide instructions for making enzymes involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name.
What is mucopolysaccaridosis type III (MPS III)?
Mucopolysaccaridosis type III (MPS III) is a rare genetic condition that causes fatal brain damage. It is also known as Sanfilippo syndrome and is a type of childhood dementia. MPS III is caused by a lack of an enzyme that normally breaks down and recycles a large, complex sugar molecule called ‘heparan sulphate’.
What is the prognosis of MPS III (MPS LLL)?
All types of MPS III are associated with mental deterioration, but the severity and rate of progression depends on the particular type of MPS lll. There is also variability in severity within the sub-types and even between affected siblings.
What is MPS III (Sanfilippo syndrome)?
Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a progressive disorder that primarily affects the brain and spinal cord (central nervous system). It is characterized by deterioration of neurological function (neurodegeneration), resulting in many of the features of the condition.
