Lysosomal Disorders - Mucopolysaccharidosis Type IX

As of 2001, only one case of MPS IX (Online 'Mendelian Inheritance in Man' (OMIM) 601492) had been reported. The disorder results from hyaluronidase deficiency. Symptoms included nodular soft-tissue masses located around joints, with episodes of painful swelling of the masses and pain that ended spontaneously within 3 days. Pelvic radiography showed multiple soft-tissue masses and some bone erosion. Other traits included mild facial changes, acquired short stature as seen in other MPS disorders, and normal joint movement and intelligence.



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