Mucopolysaccharidosis (MPS): differential diagnosis

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Mucopolysaccharidosis (MPS): differential diagnosis. Mucolipidosis, Fucosidosis, Mannosidosis, Gaucher disease. Fully referenced neurology checklist.

Phenotypic differentials

  • Mucolipidosis
  • Fucosidosis
  • Mannosidosis
  • Gaucher disease
  • Niemann-Pick disease
  • Sialidosis
  • Multiple sulfatase deficiency
  • GM1 gangliosidosis
  • Galactosialidosis
  • Oligosacaridosis
  • Autism spectrum disorder
  • Muscular dystrophy
  • Fabry disease

Rheumatic differentials

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References

  1. Wiśniewska K, Wolski J, Gaffke L, Cyske Z, Pierzynowska K, Węgrzyn G. Misdiagnosis in mucopolysaccharidoses. J Appl Genet 2022; 63:475-495.
  2. Kubaski F, de Oliveira Poswar F, Michelin-Tirelli K, et al. Diagnosis of mucopolysaccharidoses. Diagnostics (Basel) 2020; 10:172.

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