Mucopolysaccharidosis (MPS): clinical features

Evidence-based neurology checklist on mucopolysaccharidosis (mps): clinical features: Pathology MPS are caused by lysosomal hydrolase deficiency The deficiency impairs the breakdown of long-chain carbohydrates (GAGs) This results in accumulation of partially degraded GAGs in tissues Genetics…

Pathology

  • MPS are caused by lysosomal hydrolase deficiency
  • The deficiency impairs the breakdown of long-chain carbohydrates (GAGs)
  • This results in accumulation of partially degraded GAGs in tissues

Genetics

Facial features

Central neurological features

Peripheral neurological features

Ocular features

Abdominal features

Cardiorespiratory features

Skeletal deformities

Hand deformities

References

  1. Zafeiriou DI, Batzios SP. Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. Am J Neuroradiol 2013; 34:5-13. 
  2. Lehman TJ, Miller N, Norquist B, Underhill L, Keutzer J. Diagnosis of the mucopolysaccharidoses. Rheumatology (Oxford) 2011; 50(Suppl 5):v41-v48. 
  3. Morishita K, Petty RE. Musculoskeletal manifestations of mucopolysaccharidoses. Rheumatology 2011; 50:v19-v25.
  4. Kubaski F, de Oliveira Poswar F, Michelin-Tirelli K, et al. Diagnosis of mucopolysaccharidoses. Diagnostics (Basel) 2020; 10:172.
  5. Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology 2011; 50:v4-v12.
  6. And 5 more. Subscribe to see the full list

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