Hurler–Scheie syndrome

Hurler-Scheie syndrome
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)[1]

Hurler–Scheie syndrome (also known as "mucopolysaccharidosis type I H-S") 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]

It is the subtype of mucopolysaccharidosis type I (MPS I) with intermediate severity. Hurler syndrome is the most severe form, while Scheie syndrome is the least severe form. All forms of MPS I are a spectrum of the same disease. 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 type I.[1]

See also

References

  1. 1 2 3 "Mucopolysaccharidoses Fact Sheet". National Institute of Neurological Disorders and Stroke. 15 Nov 2017. Retrieved 11 May 2018.
  2. ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
Classification
External resources
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