A doctor can diagnose mucopolysaccharidoses by:
- Physical examination
- Assessing symptoms
- Bone X-rays
- Prenatal screening
- Urine tests
Chorionic villus or amniocentesis sampling are two prenatal screening techniques that can be used to identify mucopolysaccharidoses before delivery.
The diagnosis is also supported by the occurrence of mucopolysaccharidosis in other family members.
Blood cell analysis can also be used to diagnose mucopolysaccharidoses. It is possible to perform genetic testing to assess whether a couple is more likely than not to give birth to a child who has a hereditary genetic condition.
Symptoms determine what other tests are performed. Kids who have heart issues, for instance, might have an echocardiogram, while those who have hearing issues might have audiometry.
The following are the most common treatment for mucopolysaccharidoses:
- Stem cell plant or bone marrow transplantation
- Enzyme replacement
Some mucopolysaccharidoses are being treated with lifelong enzyme replacement treatment, which may stop the diseases from getting worse and cure some of the problems.
Certain individuals may benefit from stem cell or bone marrow transplantation. These treatments are still somewhat debatable because they may cause disability or, worst, death.