Hyaluronidase deficiency

Hyaluronidase deficiency is a condition caused by mutations in the HYAL1 gene. It is also known as mucopolysaccharidosis type IX, or MPS IX, which places it among the numbered mucopolysaccharidosis types. The condition is characterized by multiple soft-tissue masses, the feature that the introductory summary of the source singles out as defining it. The two names describe the same condition, one by the missing enzyme activity and the other by its position in the mucopolysaccharidosis numbering. This entry records what the source lead supports and is not medical advice; further features, inheritance and history are left for later depth work.