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About MPS I & MPS II

Mucopolysaccharidosis type I (MPS I) and mucopolysaccharidosis type II (MPS II) are part of a subgroup of lysosomal storage disorders (LSDs) called the mucopolysaccharidoses (MPSs). They are inherited, progressive, life-threatening diseases that share many clinical features and can be difficult to distinguish clinically. They are, however, biochemically -BREAK- distinct entities.1

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Testing & Diagnosis

Diagnosis with MPS I/MPS II is usually prompt in individuals with severe phenotypes as they develop obvious and rapidly progressing signs and symptoms. However, individuals with attenuated forms of MPS I/MPS II may experience significant diagnostic delays.3,4

Case Studies

MPS I & II Case Studies

Read case studies that highlight important aspects of MPS I and MPS II diagnosis.

Testing and Diagnosis

Diagnostic Algorithm

Diagnosis with MPS I/MPS II is usually prompt in individuals with severe phenotypes as they develop obvious and rapidly progressing signs and symptoms.

Management of the Condition

Managing MPS I & MPS II

MPS I and MPS II are managed using a combination of disease-specific therapies, conventional symptomatic treatments, and surgical interventions.

References

  1. 1.Neufeld EF, Muenzer J. The Mucopolysaccharidoses In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, et al., editors. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 2014.
  2. 2.Muenzer J. (2011) Overview of the mucopolysaccharidoses. Rheumatology (Oxford) 50 Suppl 5: v4-12.
  3. 3.Beck M, Arn P, Giugliani R, et al. (2014) The natural history of MPS I: global perspectives from the MPS I Registry. Genet Med 16(10): 759-765.
  1. 4.Martin R, Beck M, Eng C, et al. (2008) Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics 121(2): e377-386.
  2. 5.Isabel Symptom Checker. Available online: http://symptomchecker.isabelhealthcare.com/home/main. Accessed 17.04.15.