![cover image](https://wikiwandv2-19431.kxcdn.com/_next/image?url=https://upload.wikimedia.org/wikipedia/commons/thumb/5/5b/Mucopolysaccharidosis_%2528Hurler%2527s_Syndrome%2529_1.jpg/640px-Mucopolysaccharidosis_%2528Hurler%2527s_Syndrome%2529_1.jpg&w=640&q=50)
Hurler syndrome
Genetic disorder / From Wikipedia, the free encyclopedia
Dear Wikiwand AI, let's keep it short by simply answering these key questions:
Can you list the top facts and stats about Hurler's syndrome?
Summarize this article for a 10 year old
Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (GAGs) in lysosomes. The inability to break down these molecules results in a wide variety of symptoms caused by damage to several different organ systems, including but not limited to the nervous system, skeletal system, eyes, and heart.
Hurler syndrome | |
---|---|
![]() | |
Patient with Hurler syndrome | |
Causes | Deficiency of the alpha-L iduronidase enzyme |
Differential diagnosis | Hurler-Scheie syndrome; Scheie syndrome; Hunter syndrome; other mucopolysaccharidoses |
Prognosis | Death usually occurs before 12 years |
Frequency | 1 in 100,000 |
The underlying mechanism is a deficiency of alpha-L iduronidase, an enzyme responsible for breaking down GAGs.[1]: 544 Without this enzyme, a buildup of dermatan sulfate and heparan sulfate occurs in the body. Symptoms appear during childhood, and early death usually occurs. Other, less severe forms of MPS Type I include Hurler–Scheie syndrome (MPS-IHS) and Scheie syndrome (MPS-IS).
Hurler syndrome is classified as a lysosomal storage disease. It is clinically related to Hunter syndrome (MPS II);[2] however, Hunter syndrome is X-linked, while Hurler syndrome is autosomal recessive.