Pseudo-Hurler polydystrophy


A rare genetic disease that is passed on via an autosomal recessive gene. It is characterized by abnormal lysosomal enzyme transport in cells of mesenchymal origin, causing elevated lysosomal enzymes in body fluids and tissues. Diagnosis is by blood test. There is currently no treatment for this disorder. Also known as mucolipidosis III.

Read Also:

  • Pseudoexfoliation syndrome

    An eye condition that often leads to glaucoma. Called the pseudoexfoliation syndrome because deposits on the surface of the lens look like flakes of dandruff, as if the lens capsule has exfoliated (shed the flakes). It is also called exfoliation syndrome.

  • Pseudodementia

    A severe form of depression that results from a progressive brain disorder in which cognitive changes mimic those of dementia.

  • Pseudogout

    Inflammation of the joints that is caused by deposits of calcium pyrophosphate crystals, resulting in arthritis, most commonly of the knees, wrists, shoulders, hips, and ankles. Pseudogout usually affects only one or a few joints at a time. True gout is due to a different type of crystal, which is formed by the precipitation of […]

  • Pseudomelanosis coli

    A benign, reversible condition usually, but not always, associated with long-term use of anthranoid laxatives in which pigment deposition in the lamina propria of the large intestine results in a brown to black discoloration of the mucosa (lining) of the large intestine. Melanosis coli produces no symptoms and is indicative of chronic senna laxative use.

  • Pseudomembranous colitis

    Severe inflammation of the inner lining of the colon. Pseudomembranous colitis is characterized by pus and blood in the stool and often caused by antibiotics.


Disclaimer: Pseudo-Hurler polydystrophy definition / meaning should not be considered complete, up to date, and is not intended to be used in place of a visit, consultation, or advice of a legal, medical, or any other professional. All content on this website is for informational purposes only.