The metabolic disorders that are caused by the absence or malfunctioning lysosomal enzymes that are needed to break down certain sugars are known as mucopolysaccharidosis. The accumulation of these sugars can cause cellular damage which could affect organs, physical abilities and mental development in patients.
HOW IS MUCOPOLYSACCHARIDOSIS DIAGNOSED?
Diagnosis of the same is done via enzyme testing that is followed with clinical examination and urine tests.
HOW IS MUCOPOLYSACCHARIDOSIS TREATED?
The various treatment options include:
• Enzyme replacement therapy (ERT) - It can relieve most symptoms and slow the progress of the disease, although it doesn't help treat symptoms from the brain, like problems with thinking or learning.
• hematopoietic stem cell transplant (HSCT) - doctors put new cells into your child's body that might make the protein their body is missing.
DID YOU KNOW?
There is a high risk of passing on this gene to the kids, even in siblings who are not affected by the disorder.