Hurler syndrome

noun

Hur·ler syndrome | \ˈhər-lər-, ˈhu̇r-\

variants: or Hurler's syndrome \ˈhər-lərz-, ˈhu̇r- \ also Hurler disease or Hurler's disease

Medical Definition of Hurler syndrome

: a rare genetic disorder that is caused by an enzyme deficiency in the metabolism of glycosaminoglycans and is characterized by deformities of the skeleton and features, hepatosplenomegaly, restricted joint flexibility, clouding of the cornea, mental retardation, deafness, and death usually in childhood or early adolescence

Note: Hurler syndrome is a mucopolysaccharidosis that is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome.

… was diagnosed earlier this month with Hurler syndrome, a degenerative enzyme-deficiency disease in which the body cannot break down sugar molecules. The build-up progressively damages cells and organs, including the lungs and heart.— Emily Bregel, The Chattanooga Times Free Press, 24 June 2010 Cord blood can also be used to treat fatal inherited enzyme deficiencies such as Hurler's syndrome, which results in progressive neurological degeneration and death.— Ronald M. Kline, Scientific American, April 2001