Back متلازمة هيرلر Arabic Hurler sindromu Azerbaijani Morbus Hurler German بیماری هورلر Persian Hurlerin oireyhtymä Finnish Syndrome de Hurler French Հուրլերի համախտանիշ Armenian Malattia di Hurler Italian Zespół Hurler Polish Синдром Гурлер Russian
| Hurler syndrome | |
|---|---|
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| Patient with Hurler syndrome | |
| Causes | Deficiency of the alpha-L iduronidase enzyme |
| Differential diagnosis | Hurler-Scheie syndrome; Scheie syndrome; Hunter syndrome; other mucopolysaccharidoses |
| Prognosis | Death usually occurs before 12 years |
| Frequency | 1 in 100,000 |
Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (GAGs) in lysosomes. The inability to break down these molecules results in a wide variety of symptoms caused by damage to several different organ systems, including but not limited to the nervous system, skeletal system, eyes, and heart.
The underlying mechanism is a deficiency of alpha-L iduronidase, an enzyme responsible for breaking down GAGs.[1]: 544 Without this enzyme, a buildup of dermatan sulfate and heparan sulfate occurs in the body. Symptoms appear during childhood, and early death usually occurs. Other, less severe forms of MPS Type I include Hurler–Scheie syndrome (MPS-IHS) and Scheie syndrome (MPS-IS).
Hurler syndrome is classified as a lysosomal storage disease. It is clinically related to Hunter syndrome (MPS II);[2] however, Hunter syndrome is X-linked, while Hurler syndrome is autosomal recessive.
- ^ James WD, Berger TG, et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
- ^ "Mucopolysaccharidoses Fact Sheet". National Institute of Neurological Disorders and Stroke. 15 Nov 2017. Retrieved 11 May 2018.