Deborah Marsden, MD, Global Medical Expert, Medical Affairs, Ultragenyx, discusses the diagnostic journey for many patients with mucopolysaccharidosis type VII (MPS VII).

MPS VII is a rare lysosomal storage disorder. The severity of MPS VII varies widely among affected individuals. Some affected individuals do not survive infancy, while others may live into adolescence or adulthood. 

One comorbidity that is often present in MPS VII is the presence of non-immune hydrops fetalis (NIHF). NIHF is a severe fetal condition characterized by the excessive accumulation of fluid within the fetal extravascular compartments and body cavities. MPS VII patients with NIHF often have a more severe form of the disease and early fatality is common. However, Dr. Marsden warns that more data is needed to fully understand the connection between these conditions.

To learn more about MPS VII and other rare metabolic disorders, visit checkrare.com/diseases/metabolic-disorders/