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behavioral issues, such as hyperactivity or compulsive disorders.Early symptoms of the condition may include: This term means that the child of two people who are carriers for Sanfilippo syndrome will have a 25% chance of developing the condition.Īlthough children are born with Sanfilippo syndrome, the symptoms rarely appear until the child is 2–6 years old. Genetics plays an important role in Sanfilippo syndrome, which is an autosomal recessive disorder. In brief, each subtype of the condition features a characteristic deficiency or lack of the following: This buildup can then lead to the following:Įach of the four subtypes of Sanfilippo syndrome is due to a deficiency or mutation in one of the four main enzymes that the body needs to break down heparan sulfate. When the body does not have the required enzyme, heparan sulfate accumulates rather than breaking down. The body creates long chains of GAGs and breaks them down through metabolic processes to aid in: Heparan sulfate is a complex sugar molecule that is part of the GAG family. There is insufficient research on the other subtypes to determine any notable changes.Īll four subtypes of Sanfilippo syndrome are the result of a genetic variation, mutation, or deficiency that prevents the body from breaking down heparan sulfate. That said, the longevity of those with type A appears to have improved significantly in the past several decades. On average, an individual with Sanfilippo syndrome has a life expectancy of 2–3 decades. The study did not include type D, but people with this variation will also likely live into adolescence or early adulthood. Those with type B or C have a longer life expectancy that typically ranges from about 11 to 34 years. A 2017 study indicates that the mean age at death for those with MPS III type A is 11–19 years. People with Sanfilippo syndrome have a high mortality rate that varies depending on the subtype. This accumulation can lead to severe brain damage and regression in development. Without this enzyme, the molecules build up in the body.

Individuals with this condition are missing, or have a dysfunctional version of, a key enzyme necessary to break down long chains of sugar molecules called mucopolysaccharides, or glycosaminoglycans (GAGs). Meanwhile, types C and D are the rarest, representing roughly 1 in 1.5 million and 1 in 1 million cases, respectively.Īll four subtypes of Sanfilippo syndrome relate to central nervous system deterioration. The next most common subtype is type B, though some countries in Southern Europe report more cases of type B than type A. Type A is the most common and most severe subtype of the condition. Approximately 1 in 70,000 children are born with the condition, but the symptoms do not typically appear until the third year of life or beyond. Sanfilippo syndrome is a progressive disease that primarily affects the central nervous system. © 2009 Wiley Periodicals, Inc.Share on Pinterest Yagi Studio/Getty Images The BTA injection into affected parotid gland produces a decrease in the severity of first bite syndrome and improves the patient's quality of life.

The first bite syndrome without or with sialogogue and degree of interference with daily activity with or without eating or drinking improved significantly at 1 and 3 month after injection ( p <. All patients completed a 4-item quality-of-life survey with a 10-point response scale designed to measure outcome of intraglandular injection of BTA. Methodsįive patients with first bite syndrome developed after head and neck surgery were treated by injection of BTA into parotid gland. The purpose of this study is to evaluate the efficacy of intraglandular injection of botulinum toxin type A (BTA) in patients with first bite syndrome. First bite syndrome is the development of pain in the parotid region after the first bite of each meal and can be seen after surgery of the parapharyngeal space.