How to make a diagnosis

Diagnosis of MPS I/MPS II usually begins with recognition of clinical signs and symptoms that raise suspicion of an MPS disorder.

However, it can be challenging to recognise the clinical signs and symptoms, particularly in individuals with attenuated disease. It is usually a particular cluster of signs and symptoms that overlap with common childhood complaints but are unlikely occur together, that raises clinical suspicion of MPS I/MPS II.1

Confirmation of diagnosis using biochemical testing is always required when there is clinical suspicion of an MPS disorder.2 Diagnosis of a specific MPS type is based on the results of biochemical testing.3 Analysis of the genetic mutation is not necessary for diagnosis but is often performed for prognostic purposes and to enable family screening.3


  1. 1.Burton BK, Giugliani R. (2012) Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr 171(4): 631-639.
  2. 2.Lehman TJ, Miller N, Norquist B, Underhill L, Keutzer J. (2011) Diagnosis of the mucopolysaccharidoses. Rheumatology (Oxford) 50 Suppl 5: v41-48.
  1. 3.Muenzer J. (2011) Overview of the mucopolysaccharidoses. Rheumatology (Oxford) 50 Suppl 5: v4-12.