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]
hurler, scheie, syndrome, genetic, disorder, caused, buildup, glycosaminoglycans, gags, various, organ, tissues, cutaneous, condition, also, characterized, mild, mental, retardation, corneal, clouding, respiratory, problems, sleep, apnea, heart, disease, devel. 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 syndromeOther namesMucopolysaccharidosis type I H SStructure of dermatan sulfate one of the molecules that accumulates in the lysosomes of MPS I patientsUsual onsetAge 3 8 yearsCausesDeficiency of the alpha L iduronidase enzymeDifferential diagnosisOther forms of MPS I Hunter syndrome other mucopolysaccharidosesTreatmentEnzyme replacement therapy with iduronidase surgeryPrognosisLife expectancy is generally into the late teens or early 20s but may vary depending on the severity of the diseaseFrequency1 115 000 Hurler Scheie syndrome intermediate 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 See also editMucopolysaccharidosisReferences edit a b c 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 External links edit nbsp This genetic disorder article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Hurler Scheie syndrome amp oldid 1183223738, wikipedia, wiki, book, books, library,
