Hurler–Scheie syndrome - Misplaced Pages

(Redirected from Hurler-Scheie syndrome) Autosomal recessive genetic condition Medical condition

Hurler-Scheie syndrome
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.

References

^ "Mucopolysaccharidoses Fact Sheet". National Institute of Neurological Disorders and Stroke. 15 Nov 2017. 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.

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Classification	D ICD-10: E76.0 ICD-10-CM: E76.02 OMIM: 607015
External resources	Orphanet: 93476

v t e Lysosomal storage diseases: Inborn errors of carbohydrate metabolism (Mucopolysaccharidoses)
Catabolism	MPS I Hurler syndrome, Hurler–Scheie syndrome, Scheie syndrome MPS II: Hunter syndrome MPS III: Sanfilippo syndrome MPS IV: Morquio syndrome MPS VI: Maroteaux-Lamy syndrome MPS VII: Sly syndrome MPS IX: Hyaluronidase deficiency

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