Fast Five Quiz: Do You Know Key Signs and Symptoms of Rare Diseases?

Germaine L. Defendi, MD, MS; Emmanuel C. Besa, MD; Michael Stuart Bronze, MD

Disclosures

September 29, 2016

The mucopolysaccharidoses (MPSs) are a family of inherited lysosomal storage disorders caused by the deficiency of enzymes required for the stepwise breakdown of GAGs. GAGs are important constituents of the extracellular matrix, joint fluid, and connective tissues of the body. Progressive accumulation of fragments of partially degraded GAGs in the lysosomes causes cellular dysfunction and clinical abnormalities. Within the MPS family, the primary organ sites of disease differ depending on the specific enzyme deficiency; therefore, clinical presentation and treatment approaches vary for the different disease types. The MPS types do share the following clinical hallmarks:

  • A chronic progressive clinical course with multisystem involvement

  • Phenotypic findings: growth failure, coarse facial features, hirsutism, organomegaly, joint contractures

  • Laboratory findings: urinary excretion of GAG fragments and leukocyte inclusion bodies

  • Radiographic abnormalities (eg, dysostosis multiplex)

For more on mucopolysaccharidoses, read here.

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