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Mucopolysaccharidosis, type IX: causes, symptoms, diagnosis, treatment
Medical expert of the article
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.
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