Definition of Hurler syndrome
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 (also called GAGs, formerly mucopolysaccharides) 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.
The underlying mechanism is a deficiency of alpha-L iduronidase, an enzyme responsible for breaking down GAGs. 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); however, Hunter syndrome is X-linked, while Hurler syndrome is autosomal recessive.
Related terms
Mucopolysaccharidosis type I
Mucopolysaccharidosis type I is a spectrum of diseases in the mucopolysaccharidosis…
CHARGE syndrome
CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a…
Noonan syndrome
Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial…
Wolfram syndrome
Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic…
Alport syndrome
Alport syndrome is a rare genetic disorder, characterized by glomerulonephritis…
Usher syndrome
Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis…
Nager acrofacial dysostosis
Nager acrofacial dysostosis, also known as Nager syndrome, is a genetic disorder which…
Noonan syndrome with multiple lentigines
Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK…
Kabuki syndrome
Kabuki syndrome (previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki…
Frequently asked questions
What is Hurler syndrome?
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 (also called GAGs, formerly…
Sources & credits
- Wikipedia: Hurler syndrome – CC BY-SA 4.0
- Image by Sydney S. Gellis and Murray Feingold – Public domain