If you suspect your child may have mucopolysaccharidosis type IIIA (MPS IIIA; also known as Sanfilippo syndrome type A), talk to your child’s pediatrician about the signs and symptoms you have noticed and ask them about next steps.
Because MPS IIIA is rare and not currently included in newborn screening, testing happens only when the condition is suspected.
Typically, children with MPS IIIA are diagnosed around 4 to 6 years of age, and it’s not uncommon for it to take 2 years or more to get a confirmed diagnosis.
Because MPS IIIA is rare and not currently included in newborn screening, testing happens only when the condition is suspected.
Typically, children with MPS IIIA are diagnosed around 4 to 6 years of age, and it’s not uncommon for it to take 2 years or more to get a confirmed diagnosis.
A diagnosis of MPS IIIA is made by running specific tests that look for markers of the condition.
Detects high levels of heparan sulfate.
Detects whether any of the changes in the SGSH gene that can cause MPS IIIA are present.
Measures sulfamidase enzyme activity in a blood or skin sample.
A child with MPS IIIA may need to see different types of specialists in addition to their pediatrician to care for their needs. These specialists may include:
Management and supportive care will be different for every child with MPS IIIA. If your child has MPS IIIA, start by talking with their pediatrician, who may refer you to other specialists based on your child’s needs.
