Sanfilippo syndrome
(Redirected from Mucopolysaccharidosis type IIID)
Sanfilippo syndrome, also known as Mucopolysaccharidosis type III (MPS III), is a genetic disorder that primarily affects the central nervous system. It is one of the mucopolysaccharidoses, a group of lysosomal storage disorders caused by the body's inability to break down glycosaminoglycans (GAGs), specifically heparan sulfate.
Etiology[edit | edit source]
Sanfilippo syndrome is caused by mutations in one of four genes, each responsible for producing an enzyme involved in the degradation of heparan sulfate. These genes are:
- SGSH (Sanfilippo syndrome type A)
- NAGLU (Sanfilippo syndrome type B)
- HGSNAT (Sanfilippo syndrome type C)
- GNS (Sanfilippo syndrome type D)
The mutations lead to a deficiency in the corresponding enzyme, resulting in the accumulation of heparan sulfate in the lysosomes of cells, particularly affecting the brain and nervous system.
Clinical Presentation[edit | edit source]
Symptoms of Sanfilippo syndrome typically appear in early childhood and may include:
- Developmental delay
- Behavioral problems
- Sleep disturbances
- Progressive intellectual disability
- Seizures
- Hearing loss
- Vision problems
As the disease progresses, children may lose the ability to speak, walk, and perform other basic functions.
Diagnosis[edit | edit source]
Diagnosis of Sanfilippo syndrome is based on clinical evaluation, family history, and genetic testing. Enzyme assays can be performed to measure the activity of the deficient enzyme in blood or skin cells. Genetic testing can confirm the specific mutation responsible for the disorder.
Management[edit | edit source]
There is currently no cure for Sanfilippo syndrome. Management focuses on supportive care to improve quality of life and may include:
Research is ongoing into potential treatments, including enzyme replacement therapy, gene therapy, and substrate reduction therapy.
Prognosis[edit | edit source]
Sanfilippo syndrome is a progressive disorder with a variable prognosis. Most individuals with the condition experience a decline in cognitive and motor skills, with life expectancy often reduced to the second or third decade of life.
Epidemiology[edit | edit source]
Sanfilippo syndrome is a rare disorder, with an estimated incidence of 1 in 70,000 births. It affects both males and females equally and occurs in all ethnic groups.
See also[edit | edit source]
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Contributors: Kondreddy Naveen, Prab R. Tumpati, MD