LSDDB

Mucopolysaccharidoses Ⅸ

This type of MPS is also called Natowicz syndrome. It is characterized due to the accumulation of hyaluronan within the lysosomes due to the deficient activity of hyaluronidase enzyme (Zhou et al., 2020). The gene for the enzyme is located at 3p21.31.

Reference :
Zhou, J. et al. (2020) ‘A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management’, Intractable & Rare Diseases Research, 9(1), pp. 1–9. doi: 10.5582/irdr.2020.01011.