Early diagnosis and management may help slow disease progression1
MPS VII is a rare, life-threatening lysosomal storage disorder1,2
Because of the heterogeneity of MPS VII, not all signs and symptoms may be immediately apparent at birth.1,2
Early diagnosis can lead to better management and may help prevent future complications.1
Since MPS VII and other MPS disorders cannot be diagnosed based on clinical presentation alone, it is important to confirm diagnosis with enzyme deficiency testing as soon as MPS is suspected. Molecular testing may also be required to confirm the diagnosis.1
The MPS diagnostic journey1
Suspect MPS?
Referral to genetic or
metabolic specialist
Enzyme Deficiency Testing
Molecular Testing
Physician confirms diagnosis
References: 1. Lehman TJA, Miller N, Norquist B, Underhill L, Keutzer J. Diagnosis of the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50(suppl 5):v41-v48. 2. Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50(suppl 5):v4-v12.