In the previous blog post, we have discussed on MPS Type II diseases, which gene is getting mutated and how the mutation affects the human body. We also talked about the symptoms for MPS Type II. Now, we will touch on MPS Type III.
MPS III also known as Sanfilippo Syndrome causes the body unable to break down GAG mainly heparan sulfate which can lead to deterioration of neurological function. Sanfilippo syndrome is usually inherited in an autosomal recessive manner and mainly affects the brain and central nervous system.
Types III-A, III-B, III-C, and III-D of MPS III are distinguishable from one another by their genetic etiology and people with this condition can have mild coarse facial features, large head, mild hepatomegaly, umbilical hernia, and inguinal hernia.
Children who are affected frequently have delayed speech and behavioral issues at first. Some of them exhibit characteristics of autism spectrum disorder, a condition marked by trouble with social relationships and communication, and they may become agitated, destructive, anxious, or aggressive.
Children with MPS III, which results in gradual intellectual incapacity and the loss of previously acquired skills, also frequently experience sleep difficulties. In severe cases, people with this disorder might also develop seizures and their movement may be affected. 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 II: The Mucopolysaccharidoses Disease Series: Type II – Awam Clinic
MPS Type IV: The Mucopolysaccharidoses Disease Series: Type IV – Awam Clinic
References:
- MedlinePlus. (2020). Mucopolysaccharidosis type III. MedlinePlus Genetics. Retrieved September 12, 2022, from https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-iii/
- 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/
- 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. (2021b). Mucopolysaccharidosis type III – About the Disease. National Center for Advancing Translational Sciences. Retrieved September 12, 2022, from https://rarediseases.info.nih.gov/diseases/3807/mucopolysaccharidosis-type-iii/
