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¿What is Sanfilippo Syndrome?

Sanfilippo Syndrome or Mucopolysaccharidosis type III (MPS III) is a rare genetic disease in which the body, due to the absence or low production of different enzymes, cannot break down the glycosaminoglycan molecules (previously called mucopolysaccharides).

The accumulation of heparan sulfate leads to the symptoms of Sanfilippo syndrome. This causes progressive brain damage and children experience hyperactivity, insomnia, loss of speech and cognitive abilities, mental retardation, heart problems, seizures, loss of mobility, dementia, and ultimately death, usually before the second decade of life.
Sanfilippo Syndrome Relentless, devastating and has a 100% mortality rate.


Subtypes of Sanfilippo Syndrome

There are 4 types of Sanfilippo and they are distinguished by the enzyme that is affected.

Type A is generally considered the most serious subtype of Sanfilippo and the most common. This means that most patients deteriorate faster with earlier loss of skills, such as walking and speaking. Therefore an earlier death is generated.

Type B can progress somewhat less quickly, on average, and is one of the most common.

Types C and D have more variable rates of progression, but most people tend to retain skills longer than A and B.

Type A 

heparan N-sulfatasa

The estimated incident rate is 1 in 100,000 live births.
Defect in the SGSH gene.

Type B 


The estimated incident rate is 1 in 200,000 live births.
Defect in the NAGLU gene.

Type C 

acetil-CoAlpha-glucosaminida acetiltransferasa.

The estimated incident rate is 1 in 1,400,000.
Defect in the HGDNAT gene.

Type D 

N-acetilglucosamina 6-sulfatasa

estimated incident rate is 1 in 1,100,000.
Defect in the GNS gene.

There is currently no treatment or cure available for families diagnosed with this disease. However, researchers around the world are working to bring therapeutic treatments to life through gene therapy, which represents the most promising avenue for Sanfilippo patients.


¿How is it inherited?

Sanfilippo Syndrome is an autosomal recessive disease in which both parents carry a disease-causing genetic mutation. In general, it is rare to find out that you are a carrier of the disease.
In each pregnancy there is a 50% chance that the child will be a carrier of this mutation, and even if healthy, they will be able to transmit the genetic mutation to their offspring. There is a 25% chance that the child will be just as healthy and not carry the mutation. And there is a 25% chance that the child will be affected by the disease.



The symptoms of MPS III usually do not appear until the child is between two and six years of age; They often start their presence slowly, quietly, and get worse over time.
Children with Sanfilippo may show symptoms that appear in people with autism spectrum disorder (ASD). In fact, they may get an ASD diagnosis first, which can prevent them from getting a correct diagnosis of MPS III for months or years.

Main Symptoms 
- Hyperactivity.
- Attention deficit.
- Sleep disorder.
- Loss of speech.
- Mental retardation.
- Seizures.
- Loss of mobility.
- Hearing loss.
- Frequent ear infections.
- Loss of sphincter control.

Other Symptoms
- Enlarged liver - Hepatomegaly.
- Chronic diarrhea
- Umbilical and recurrent hernia.
- Cognitive impairment.
- Perivascular spaces
- Recurrent infections of the upper respiratory tract.

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How is it diagnosed

After the clinical suspicion, which presents different physical characteristics such as coarse facial features, macrocephaly, bushy eyebrows, thick lips, short stature, thick skin, larger than normal tongue, prominent nasolabial fold and different delays in the development of the child. , you must proceed to:
- GAG (glugosaminoglycans) in urine
- Enzymatic activity (electrophoresis)
- Molecular Analysis.

This entire process must be carried out under genetic counseling and a multidisciplinary team



To date there is no treatment available for those affected by Sanfilippo Syndrome. But in the world, different clinical trials are being carried out that in the future may provide a treatment or a cure.
For now, the most recommended is to have a multidisciplinary management and have palliative care among which we highlight:
- Speech therapy, occupational therapy, physical therapy and behavioral therapy.
- Diet due to dairy intolerance problems in some cases.
- Anticonvulsant drugs.
- Ear, nose and throat therapies.
- Medicines for heart problems.
- Educational interventions.
- Medical Controls with Genetics, Neurology, Psychiatry, Orthopedics, Cardiology, Otolaryngology, Ophthalmology, Optometry, Palliative Care, among others.


Research and Clinical Trials

The disease was first described by Pediatrician Sylvester Sanfilippo in 1963, who died on May 2, 2013. Since 1960 he began to identify different types of mucopolysaccharidoses in urine, describing with the collaboration of other colleagues mental retardation in mucopolysaccharides. .

Since then, much progress has been made towards a better understanding of the pathology, as well as towards the investigation of effective therapeutic approaches.

Beyond clinical trials, there is basic and translational (early-stage research) research exploring multiple therapies on how to address the systemic impact and symptoms of to improve patients' quality of life.


As a family affected by Sanfilippo Syndrome, we know that receiving the news is not easy.

By sharing our experiences we can help many to know how serious the disease is and thus raise awareness with quality information.

If you have questions about any event or activity, contact us or send a message via WhatsApp.

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