Hurler–Scheie syndrome

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Hurler-Scheie syndrome
Other names: Mucopolysaccharidosis type I H-S
Dermatan sulfate.PNG
Structure of dermatan sulfate, one of the molecules that accumulates in the lysosomes of MPS I patients
Usual onsetAge 3-8 years
CausesDeficiency of the alpha-L iduronidase enzyme
Differential diagnosisOther forms of MPS I; Hunter syndrome; other mucopolysaccharidoses
TreatmentEnzyme replacement therapy with iduronidase; surgery
PrognosisLife expectancy is generally into the late teens or early 20s, but may vary depending on the severity of the disease
Frequency1:115,000 (Hurler-Scheie syndrome/intermediate)[1]

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.[2] Respiratory problems, sleep apnea, and heart disease may develop in adolescence.[1]

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]

Individual with cloudy corneas

See also


  1. 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.
  2. Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.

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