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Mucopolysaccharidosis, type IX: causes, symptoms, diagnosis, treatment

Medical expert of the article

Children's geneticist, children's doctor
, medical expert
Last reviewed: 23.04.2024

ICD-10 code

  • E76 Disorders of glycosaminoglycan metabolism.
  • E76.2 Other mucopolysaccharidoses.

Epidemiology

Mucopolysaccharidosis, type IX is an extremely rare form of mucopolysaccharidosis. To date, there is a clinical description of one patient, a girl of 14 years.

Causes of mucopolysaccharidosis of type IX

Mucopolysaccharidosis, type IX, is due to mutations of the HYAL1 gene mapped on chromosome Sp. 21.2. The gene encodes the enzyme hyaluronidase.

Symptoms of mucopolysaccharidosis IX type

The main clinical manifestations of the disease are symmetrical nodular deposits in the parotid regions, mild dysmorphic features, growth retardation and preserved intelligence; stiffness of the joints is absent. When X-ray revealed multiple ulceration of the acetabulum.

trusted-source[1], [2], [3], [4], [5]


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