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.

TESTING & DIAGNOSIS

Diagnosis of Fabry disease is often delayed and patients usually visit several medical specialists before a correct diagnosis is made.1 Data suggests that the overall diagnostic delay for patients with Fabry disease is around 15 years.1 The initial screening assay can be done by the suspecting specialist.

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.