|Other names: Mucopolysaccharidosis type I H-S|
|Structure of dermatan sulfate, one of the molecules that accumulates in the lysosomes of MPS I patients|
|Usual onset||Age 3-8 years|
|Causes||Deficiency of the alpha-L iduronidase enzyme|
|Differential diagnosis||Other forms of MPS I; Hunter syndrome; other mucopolysaccharidoses|
|Treatment||Enzyme replacement therapy with iduronidase; surgery|
|Prognosis||Life expectancy is generally into the late teens or early 20s, but may vary depending on the severity of the disease|
|Frequency||1:115,000 (Hurler-Scheie syndrome/intermediate)|
Hurler–Scheie syndrome is a genetic disorder caused by the buildup of glycosaminoglycans (GAGs) in various organ tissues. It is a cutaneous condition, also characterized by mild mental retardation and corneal clouding. Respiratory problems, sleep apnea, and heart disease may develop in adolescence.
Hurler-Scheie syndrome is classified as a lysosomal storage disease. Patients with Hurler-Scheie syndrome lack the ability to break down GAGs in their lysosomes due a deficiency of the enzyme iduronidase.
All forms of mucopolysaccharidosis type I (MPS I) are a spectrum of the same disease. Hurler-Sheie is the subtype of MPS I with intermediate severity. Hurler syndrome is the most severe form, while Scheie syndrome is the least severe form. Some clinicians consider the differences between Hurler, Hurler-Scheie, and Scheie syndromes to be arbitrary. Instead, they classify these patients as having "severe", "intermediate", or "attenuated" MPS I.
- ↑ 1.0 1.1 1.2 "Mucopolysaccharidoses Fact Sheet". National Institute of Neurological Disorders and Stroke. 15 Nov 2017. Archived from the original on 25 April 2021. Retrieved 11 May 2018.
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.