Definition of Pseudo-Hurler polydystrophy

Reviewed on 3/29/2021

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.

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