Английская Википедия:Hurler–Scheie syndrome

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Шаблон:Short description Шаблон:Infobox medical condition (new) 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.[1] Respiratory problems, sleep apnea, and heart disease may develop in adolescence.[2]

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.[2]

See also

References

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External links

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Шаблон:Mucopolysaccharidoses

Шаблон:Genetic-disorder-stub

  1. Шаблон:Cite book
  2. 2,0 2,1 Ошибка цитирования Неверный тег <ref>; для сносок NINDS не указан текст