Home > Encyclopedia of Genetic Disorders > Hurler syndrome

Definition

Hurler syndrome is a disorder that results when cells cannot break down two by-products of normal metabolism. These byproducts, dermatan sulfate and heparan sulfate, build up and disrupt normal cell function, leading to severe disease. The disease affects most body systems, causing progressive deterioration of tissues and organs.

Description

Though present from conception, Hurler syndrome may be undetectable at birth. The newborn often looks healthy and seems to develop normally for the first few months. However, symptoms begin to appear around the age of six months, when dermatan sulfate and heparan sulfate reach dangerous levels.

Individuals with Hurler syndrome lack sufficient amounts of the enzyme needed to break down dermatan sulfate and heparan sulfate. This enzyme,...