On the previous blog post, we discussed on what Mucopolysaccharidoses Disease (MPS) is and how genetics play an important role for the disease. We also touched upon Type 1 of the MPS disease, what genes are involved and how the mutation cause changes to the human body. This week, we will talk about MPS Type II diseases.
Different from type I, MPS type II is mainly affecting the IDS gene which caused the lack of IDS enzyme also known as iduronate 2-sulfatase (I2S). This enzyme is very important in the breakdown of large sugar molecules such as GAGs. This condition is inherited on X-Chromosome hence occurs exclusively in males and it affects carbohydrate metabolism.
MPS II was once classified based on its severity. Recently, it was suggested that terms such as slowly progressive and early progressive be used for this disorder. Interestingly, people with the less severe condition level can live into adulthood and their intelligence is typically not affected by it.
Furthermore, MPS II can be distinguished by unusual facial features, a large head, hydrocephalus, hepatosplenomegaly, an umbilical or inguinal hernia, and hearing loss. People who have this syndrome may also have heart problems involving valves and joint deformities. The common age for symptoms to begin is usually during childhood (2-11 years old).
MPS disorders are irreversible due to this disease being inherited from parents. However, proper treatments can be adopted for patients such as enzyme replacement therapy (ERT), hematopoietic cell transplantation (HCT), and gene therapy. Do consult with the doctors on which treatments are suitable for you.
Witty Charman Medical shall be starting Diagnostic Testing services in newborn children and babies for this disease, using Dried Blood Stains in collaboration with College of American Pathology accredited Laboratories.
Contact us for more details at info@wittycharman.com or at:
- Wendy (+6012-387 8395 / wendy@wittycharman.com)
- Auni (+60 13-233 3646 / auni@wittycharman.com)
- Arissa (+60 12-210 3438 / arissa@wittycharman.com)
Read more on all MPS Types here:
MPS Type I: The Mucopolysaccharidoses Disease Series: Type I – Awam Clinic
MPS Type III: The Mucopolysaccharidoses Disease Series: Type III – Awam Clinic
MPS Type IV: The Mucopolysaccharidoses Disease Series: Type IV – Awam Clinic
References:
- Clarke, L. A. (2008, January). The mucopolysaccharidoses: a success of molecular medicine. Expert Reviews in Molecular Medicine, 10. https://doi.org/10.1017/s1462399408000550
- Genetic and Rare Diseases Information Center. (2021a). Mucopolysaccharidosis type II – About the Disease – Genetic and Rare Diseases Information Center. National Center for Advancing Translational Sciences. Retrieved September 12, 2022, from https://rarediseases.info.nih.gov/diseases/6675/mucopolysaccharidosis-type-ii/
- NORD – National Organization for Rare Disorders. (2017, June 23). Mucopolysaccharidoses. NORD (National Organization for Rare Disorders). Retrieved September 12, 2022, from https://rarediseases.org/rare-diseases/mucopolysaccharidoses/
