Hurler syndrome
noun
Hur·ler syndrome
ˈhər-lər-, ˈhu̇r- 
variants
or Hurler's syndrome
also Hurler disease
or Hurler's disease
: 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, intellectual disability, 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
Emily BregelCord 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
Ronald M. KlineCite this Entry
“Hurler syndrome.” Merriam-Webster.com Medical Dictionary, Merriam-Webster, https://www.merriam-webster.com/medical/Hurler%20syndrome. Accessed 31 Oct. 2025.
Copy CitationLove words? Need even more definitions?
Merriam-Webster unabridged
Share