Sanfilippo syndrome, also known as mucopolysaccharidosis type III or MPS III, is a genetic metabolic disease characterized by decreased activity or the absence of an enzyme responsible for the degradation of some of the long-chain sugars, heparan sulfate, which causes the appearance of this substance..accumulate in cells and cause neurological symptoms, for example.
Symptoms of Sanfilippo syndrome develop gradually and may initially be perceived through difficulty concentrating and delayed speech development, for example in more advanced cases of the disease, there may be mental changes and vision loss, so it is important that the disease is diagnosed in its early stages to prevent the onset of severe symptoms.
- Symptoms of Sanfilippo syndrome are often difficult to identify because they can be confused with other situations.
- But they can occur in children from age 2 and vary depending on the stage of development of the disease.
- The main symptoms being:.
In the most severe cases, which usually occur in late adolescence and early adulthood, behavioral symptoms gradually disappear, but due to the high accumulation of heparan sulfate in cells, neurodegenerative signs, such as dementia, may appear.loss of vision and speech, decreased motor skills and loss of balance.
Sanfilippo syndrome can be classified into 4 main types depending on the enzyme that is non-existent or low-activity, the main types of this syndrome are:
Diagnosis of Sanfilippo syndrome is based on the assessment of the patient’s symptoms and the results of laboratory tests, it is generally recommended to perform urine tests to check the concentration of long-chain sugars, blood tests to check the activity of enzymes and check the type of the disease, as well as genetic tests to identify the mutation responsible for the disease.
Treatment of Sanfilippo syndrome is intended to relieve symptoms, and it is important that it is performed by a multidisciplinary team, consisting of a pediatrician or general physician, a neurologist, an orthopedist, an ophthalmologist, a psychologist, an occupational therapist and a physical therapist, for example, that in this syndrome the symptoms are progressive.
When diagnosed in the early stages of the disease, bone marrow transplantation can also have positive results in the early stages it is possible to prevent neurodegenerative symptoms and those related to motor skills and speech from being very serious, so it is important to have sessions of physiotherapy and occupational therapy, for example.
In addition, it is important that if there is a family history or the partner is a parent, genetic counseling is recommended to verify the risk of the child having the syndrome, so it is possible to guide parents about the disease and how to help the child lead a normal life.Understand how genetic counseling is done.