What Is Sanfilippo Syndrome?
Sanfilippo Syndrome is a familial metabolic disorderliness , in which the body is ineffectual to break down a sugar speck called glycosaminoglycans . This disease is caused due to a missing or misfunction enzyme responsible for for breakdown of glycosaminoglycans resulting in its buildup in the body stimulate variety of symptom and complications . As of now , Sanfilippo Syndrome does not have any cure and the overall medical prognosis of children bear on with this disease is guarded with some nipper surviving till teenage year .
Sanfilippo Syndrome is also called as Mucopolysaccharidosis type III or MPS III
What Are The Causes And Types Of Sanfilippo Syndrome?
Sanfilippo Syndrome is an autosomal recessionary trait meaning that both parents need to pack the defective cistron in ordering for the offspring to get the disease . There are basically four case of Sanfilippo Syndrome . These are :
The peril of developing Sanfilippo Syndrome is amplify when there is a known family story of this disease .
What Are The Symptoms Of Sanfilippo Syndrome?
Symptoms Of Sanfilippo Syndrome Include:
How Is Sanfilippo Syndrome Diagnosed?
For diagnosis of Sanfilippo Syndrome , if a physical examination is conducted then there will be visible swelling of the liver and spleen . A neuropsychological evaluation can also be done to look for intellectual abnormalities which is a feature of speech of Sanfilippo Syndrome . pee tests may be done to appear for lofty levels of glycosaminoglycans .
Some of the other tests that can be done for a substantiating diagnosing of Sanfilippo Syndrome are :
What Are The Treatments For Sanfilippo Syndrome?
As stated , till date there is no classical cure for Sanfilippo Syndrome . This disease progresses gradually and stimulate stark genial impairment . Supportive handling is the only choice at the present time . Research is on to develop a treatment for Sanfilippo Syndrome .
Life Expectancy In Sanfilippo Syndrome
A child with Sanfilippo Syndrome may survive up to teenage years or may be even prospicient but the lineament of aliveness may not be good with intellectual abnormality . Children with Type - A Sanfilippo Syndrome may not survive for long .
Complications Of Sanfilippo Syndrome
Some Of The Complications Of Sanfilippo Syndrome Are:
