Sanfilippo disease (mucopolysaccharidosis type III) is an incurable disease in which tissues and organs are damaged, and then the entire body is destroyed. The consequence is a quick and severe regression of the patient's psychomotor development. What are the causes and symptoms of Sanfilippo disease? What is the treatment?

Sanfilippo disease (mucopolysaccharidosis type III, MPS III)is a very rare genetic disease in which one of the mucopolysaccharides - heparin sulphate - accumulates in tissues and organs, which leads to their irreversible damage, and further to the destruction of the child's body.

The prevalence of MPS III is estimated at 1 in 66,000 births.

Sanfilippo disease (mucopolysaccharidosis type III) - causes and inheritance

The cause of the disease is a genetic mutation that leads to the lack of one of the four enzymes (special proteins) that are responsible for the breakdown of heparin sulfate and its removal from the body: heparan-N-sulfatase (mucopolysaccharidosis type III A), alpha -N-acetylglucosaminidase (mucopolysaccharidosis type III B), alpha-glucosaminidine acetyl-coenzyme A (mucopolysaccharidosis type III C), N-acetylglucosamine-6-sulfatase (mucopolysaccharidosis type III D).

The disease is inherited recessively, which means that a child must receive a copy of the defective genes from both parents for the disease to develop.

Sanfilippo disease (mucopolysaccharidosis type III) - symptoms

During the first 2-3 years of life, the child develops normally. However, after this period, psychomotor development begins to regress. At first, the symptoms of the disease are uncharacteristic, as there are behavioral changes, emotional problems, and hyperactivity with the features of autism.

Then it slows down the mental development of the child - he has difficulties with concentration and memory, stops speaking properly.

Then symptoms of motor disability appear - the child stands unsteadily on his feet, often loses his balance, has difficulty moving. Eventually he loses his ability to walk.

Then there are changes in facial features - lips thicker, neck short and nose too wide.

In addition, children often catch a cold, suffer from chronic ear infections (often resulting in hearing loss) and an overgrowth of the third tonsil. In addition, she may struggle with recurring diarrhea. Retinitis pigmentosa or obstructive sleep apnea (OSA) may also develop.

Sanfilippo disease (mucopolysaccharidosis type III) - diagnosis

The mainstay of diagnostics is urine testing - in the case of Sanfilippo syndrome, increased excretion of heperan sulfate in the urine is found. In addition, genetic tests are performed (to identify mutations).

Imaging tests are also recommended to determine what changes have occurred in individual organs, e.g. computed tomography to determine changes in the structure of the brain, ultrasound of the heart, ultrasound or computed tomography of the abdominal cavity, audiological examination to diagnose damage hearing.

Sanfilippo disease (mucopolysaccharidosis type III) - treatment

Causal treatment is not possible. However, recently prof. Grzegorz Węgrzyn from the University of Gdańsk has developed a drug that inhibits the progression of the disease, and thus prolongs the life of sick people (this is what the first pilot studies on patients showed). Its basis is soybean extract, from which genistein is obtained - a substance that inhibits the development of the Samfilippo syndrome. However, there is a lack of funding for further research.

Sanfilippo disease (mucopolysaccharidosis type III) - prognosis

A child does not reach the age of majority, most often it dies at the age of 13 or 14.

Source: Save Life Association

Category:

Genetic diseases