Hurler-syndrome meaning

hûr lər
A type of mucopolysaccharidosis (MPS IH) characterized by the presence of dermatan sulfate and heparan sulfate in the urine, skeletal abnormalities, facial dysmorphism, corneal clouding, enlargement of the liver and spleen, intellectual disability, and hearing loss.
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(pathology, pathology) A genetic disorder that results in the buildup of glycosaminoglycans due to a deficiency of alpha-L iduronidase.
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Origin of hurler-syndrome

  • Named after Gertrud Hurler, a German pediatrician and a medical practitioner.
    From Wiktionary