Hurler syndrome

noun

Hur·​ler syndrome ˈhər-lər-, ˈhu̇r- 

variants or Hurler's syndrome

ˈhər-lərz-, ˈhu̇r- 

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

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