Hurler syndrome

noun
Hur·​ler syndrome | \ ˈhər-lər-, ˈhu̇r- How to pronounce Hurler syndrome (audio) \
variants: or Hurler's syndrome \ ˈhər-​lərz-​, ˈhu̇r-​ How to pronounce Hurler's syndrome (audio) \ 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, 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 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

Learn More about Hurler syndrome

Cite this Entry

“Hurler syndrome.” Merriam-Webster.com Medical Dictionary, Merriam-Webster, https://www.merriam-webster.com/medical/Hurler%20syndrome. Accessed 25 Feb. 2020.

Comments on Hurler syndrome

What made you want to look up Hurler syndrome? Please tell us where you read or heard it (including the quote, if possible).

WORD OF THE DAY

See Definitions and Examples »

Get Word of the Day daily email!

Test Your Vocabulary

More Confusing Words—Quiz

  • cats on impossible timber
  • The magician ______ moved the selected card to the top of the deck.
Spell It

Can you spell these 10 commonly misspelled words?

TAKE THE QUIZ
Bee Cubed

Test Your Knowledge - and learn some interesting things along the way.

TAKE THE QUIZ
Love words? Need even more definitions?

Subscribe to America's largest dictionary and get thousands more definitions and advanced search—ad free!