Mucopolysaccharidosis (MPS): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Mucopolysaccharidosis (MPS): clinical features. MPS are caused by lysosomal hydrolase deficiency. Fully referenced neurology checklist.
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
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Facial features
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Central neurological features
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Peripheral neurological features
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Ocular features
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Abdominal features
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Cardiorespiratory features
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Skeletal deformities
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Hand deformities
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References
- Zafeiriou DI, Batzios SP. Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. Am J Neuroradiol 2013; 34:5-13.
- Lehman TJ, Miller N, Norquist B, Underhill L, Keutzer J. Diagnosis of the mucopolysaccharidoses. Rheumatology (Oxford) 2011; 50(Suppl 5):v41-v48.
- Morishita K, Petty RE. Musculoskeletal manifestations of mucopolysaccharidoses. Rheumatology 2011; 50:v19-v25.
- Kubaski F, de Oliveira Poswar F, Michelin-Tirelli K, et al. Diagnosis of mucopolysaccharidoses. Diagnostics (Basel) 2020; 10:172.
- Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology 2011; 50:v4-v12.
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