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

Learn More about Hurler syndrome

Share Hurler syndrome

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

to corrupt or become corrupted

Get Word of the Day daily email!

Test Your Vocabulary

A Green Quiz

  • shamrock
  • What is the best definition of green-eyed monster?
Name That Thing

Test your visual vocabulary with our 10-question challenge!

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!