Mucopolysaccharidosis Type III, commonly known as Sanfilippo Syndrome, is a rare, inherited metabolic disorder characterized by the body’s inability to properly break down certain sugars called glycosaminoglycans. This condition is divided into four subtypes (A, B, C, and D), each caused by a deficiency in one of the four enzymes required for the stepwise degradation of glycosaminoglycans. The HGSNAT gene, responsible for the C subtype, leads to a deficiency in the enzyme acetyl-CoA: alpha-glucosaminide acetyltransferase. This article focuses on the symptoms associated with the HGSNAT gene mutation, leading to Mucopolysaccharidosis Type 3C, and the importance of genetic testing, specifically the HGSNAT Gene Mucopolysaccharidosis Type 3C Genetic Test offered by DNA Labs UAE for 4400 AED.
Symptoms of HGSNAT Gene Mucopolysaccharidosis Type 3C
Mucopolysaccharidosis Type 3C (MPS IIIC) is a progressive disorder that affects many parts of the body. The severity of symptoms can vary widely among affected individuals. Symptoms usually start in early childhood and may include:
- Developmental delay and progressive intellectual decline
- Behavioral problems, including hyperactivity, aggression, and sleep disturbances
- Speech and language delay
- Coarse facial features
- Stiff joints that may limit mobility
- Hearing loss
- Recurrent respiratory infections
- Enlarged liver and spleen (hepatosplenomegaly)
As the disease progresses, symptoms become more severe and may lead to significant physical and intellectual disability. Early diagnosis and intervention can help manage symptoms and improve the quality of life for those affected.
Importance of Genetic Testing for Mucopolysaccharidosis Type 3C
Genetic testing plays a crucial role in the diagnosis of Mucopolysaccharidosis Type 3C. The HGSNAT Gene Mucopolysaccharidosis Type 3C Genetic Test is a specific test designed to detect mutations in the HGSNAT gene, confirming the diagnosis of MPS IIIC. This test is vital for:
- Confirming the diagnosis when MPS IIIC is suspected based on clinical symptoms and biochemical testing
- Allowing for early intervention and management of the disease
- Providing information for family planning and genetic counseling for affected families
- Enabling participation in clinical trials and access to emerging therapies
The cost of the HGSNAT Gene Mucopolysaccharidosis Type 3C Genetic Test at DNA Labs UAE is 4400 AED. This investment can provide crucial information for affected individuals and their families, guiding their healthcare decisions and improving outcomes.
Conclusion
Mucopolysaccharidosis Type 3C is a challenging condition that requires early diagnosis and comprehensive care. The symptoms associated with the HGSNAT gene mutation are progressive and can significantly impact the quality of life. Genetic testing, such as the HGSNAT Gene Mucopolysaccharidosis Type 3C Genetic Test offered by DNA Labs UAE, is an essential tool in the diagnostic process. By confirming the diagnosis, affected individuals can receive the targeted support and treatment they need. For more information and to schedule a test, visit DNA Labs UAE.
