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Mucopolysaccharidosis type 3

Mucopolysaccharidosis type 3 Causes

MPS III is caused by the excess in heparan sulfate accumulating in the lyosomes of tissues and organs, leading to diverse morphological abnormalities. Genetic causes are transmitted as an autosomal recessive trait.

Mucopolysaccharidosis type 3 Definition

Mucopolysaccharidosis (MPS) type III or Sanfilippo syndrome can result from the deficiency of one of four enzymes that are necessary to degrade heparan sulfate. MPS III also has 3 subgroups namely A, B, C, and D.

Mucopolysaccharidosis type 3 Diagnosis

CT scans as well as imaging studies can aid in the diagnosis of the disorder.

Mucopolysaccharidosis type 3 Symptoms and Signs

Children affected with the syndrome are born without clinical symptoms. Behavior problems usually occur in children older than 2 years while neurological disorder begins among those older than 6 years. Death may happen until after puberty.

Mucopolysaccharidosis type 3 Treatment

Treatment for MPS III is generally supportive due to the varied symptoms. Some patients may require consultations with specialists in neurology, orthopedics, pediatrics, ophthalmology, and audiology. Patients may also be referred to medical geneticists for genetic diagnosis and counseling.

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