MPS III A, also known as Sanfilippo syndrome type A, is a rare and progressive genetic disorder categorized under the larger group of Mucopolysaccharidoses (MPS). It is specifically classified as MPS type III due to its characteristic involvement of the body's ability to break down certain complex sugar molecules called glycosaminoglycans (GAGs).
Individuals with MPS III A experience a deficiency in the enzyme called heparan N-sulfatase, which is responsible for breaking down heparan sulfate, a type of GAG. As a result, heparan sulfate accumulates in tissues, leading to a variety of symptoms and complications.
This condition is typically noticed in early childhood, with symptoms including developmental delays, intellectual disability, behavioral problems, and sleep disturbances. Over time, affected individuals may also develop physical symptoms such as coarse facial features, skeletal abnormalities, joint stiffness, hepatomegaly (enlarged liver), and splenomegaly (enlarged spleen).
The progression of MPS III A is relentless, as affected individuals gradually lose cognitive and physical function, leading to severe disability. Generally, individuals with MPS III A have a significantly reduced life expectancy.
Treatment options for this condition are limited, focusing mainly on managing symptoms and improving quality of life. Supportive care, physical and occupational therapy, and medication management are commonly employed strategies.
Overall, MPS III A is a rare genetic disorder that affects the body's ability to break down specific sugar molecules. Its progressive nature leads to a range of symptoms and complications, resulting in significant impairment in affected individuals.
