Mucopolysaccharidosis Type 1 (MPS I): Symptoms & Signs

Mucopolysaccharidosis type 1 is a so-called lysosomal storage disease.

There are different types of the condition with varying symptoms and severity. Signs and associated symptoms can include

Other symptoms and signs can include

  • narrowing of the spinal canal (spinal stenosis),
  • heart valve abnormalities,
  • short stature,
  • joint deformities, and
  • developmental delays and regression.

Cause of mucopolysaccharidosis type 1

Mutations in a gene known as IDUA cause mucopolysaccharidosis type 1. This gene is responsible for producing an enzyme involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). The lack of IDUA enzyme causes a buildup of GAGs within cells, specifically inside the lysosomes, compartments within cells that recycle and break down different types of substances.

Other mucopolysaccharidosis type 1 symptoms and signs

  • An Enlarged Head, Lips, Cheeks, Tongue, and Nose
  • Developmental Delays and Regression
  • Enlarged Vocal Cords, Resulting in a Deep Voice
  • Frequent Upper Respiratory Infections
  • Hearing Loss
  • Heart Valve Abnormalities
  • Hepatosplenomegaly (Enlarged Liver and Spleen)
  • Hernias
  • Joint Deformities
  • Narrowing of the Spinal Canal (Spinal Stenosis)
  • Recurrent Ear Infections
  • Short Stature
  • Sleep Apnea

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Medically Reviewed on 1/30/2020
Jameson, J. Larry, et al. Harrison's Principles of Internal Medicine, 20th Ed. New York: McGraw-Hill Education, 2018.