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Child suffering from sanfilippo syndrome. No treatment available. Can it be cured?

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Pediatrician, Infectious Diseases
Practicing since : 2005
Answered : 1528 Questions
My 4.5 years old daughter is suffered by MPS-111.--B(Sanfilippo syndrome) . We found it in last week only. The doctor told us that there is no treatment in the world now. Is it curable at this stage?.
Please help me.
Posted Wed, 11 Jul 2012 in Child Health
Answered by Dr. Hema Yadav 1 hour later
Thanks for posting your query.
MPS 3 is a genetic disorder in which there is a lack of the enzyme needed to break down the glycosaminoglycan heparan sulfate. This causes accumulation of toxic byproducts causing neurological and other systemic damage.

Treatment remains largely supportive. The behavioral disturbances of MPS-III respond poorly to medication. If an early diagnosis is made, bone marrow replacement may be beneficial. Although the missing enzyme can be manufactured and given intravenously, it cannot penetrate the blood–brain barrier and therefore cannot treat the neurological manifestations of the disease.
Hence neonatal screening and early treatment is advisable .
So considering the age and condition of your child your doctor has given you the right advice that it's not curable anywhere in the world.
However supportive treatment should be continued to delay complications and prolong survival.
Hope that answers your query.
Wish you all the best .
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