Mucopolysaccharidosis Type VI


Any other diseases that look a lot like Mucopolysaccharidosis Type VI (phenocopies, differential diagnoses)?

They are several different kinds of mucopolysaccharidosis (MPS) conditions (types I, II, IVA, and VII) that may look similar to MPS type VI because they have similar symptoms early on in life. However, as symptoms progress, it becomes easier to distinguish between the different types. Urine testing for various compounds can also help to narrow down the type of MPS. Some genetic conditions called mucolipidoses may also present similarly to mucopolysaccharidoses. It is important to talk to a doctor who has experience with patients with these conditions in order to be properly diagnosed.

Valayannopoulos, V., Nicely, H., Harmatz, P., & Turbeville, S. (2010). Mucopolysaccharidosis VI. Orphanet Journal of Rare Diseases, 5, 5.

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