Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report
نویسندگان
چکیده
منابع مشابه
Mucopolysaccharidosis type I Hurler-Scheie syndrome affecting two sisters
Mucopolysaccharidosis I (MPS I) is a rare inherited disorder characterized by physical deformities and developmental anomalies. Part of a group of clinically progressive disorders, it is caused by the deficiency of the lysosomal enzyme, α-L -iduronidase, which results in intralysosomal accumulation of dermatan sulfate and heparan sulfate and in turn causes cell dysfunction. Two sisters, one 11 ...
متن کاملHurler syndrome (Mucopolysaccharidosis type I).
To cite: Grech R, Galvin L, O’Hare A, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2012008148 DESCRIPTION Hurler syndrome is a rare lysosomal storage disorder with a prevalence of 1 in 100 000. It is caused by a defective IDUA gene which codes for α-L iduronidase and has an autosomal recessive inheritance. Enzyme deficiency results in accumulation of der...
متن کاملThe prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK
BACKGROUND Mucopolysaccharidosis type I (MPS I) is a rare lysosomal storage disease subdivided into three phenotypes of increasing severity: Scheie, Hurler-Scheie and Hurler. To gauge the effectiveness of treatments and to determine the load likely to fall on health-care systems, it is necessary to understand the prevalence and natural progression of the disease especially with regard to life-e...
متن کاملHurler Syndrome ( Severe Type ) - A Rare Case Report
Hurler syndrome is one of the rare genetic disorders involving disturbances in mucopolysaccharide metabolism resulting in their increased accumulation in the lysosomes. This leads to a progressive disorder involving multiple organs that often results in death by second decade of life. This disease, which has several oral and dental manifestations, is first diagnosed on the basis of clinical fin...
متن کاملOpen issues in Mucopolysaccharidosis type I-Hurler
Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy. Allogeneic hematopoietic stem cel...
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ژورنال
عنوان ژورنال: Contemporary Clinical Dentistry
سال: 2011
ISSN: 0976-237X
DOI: 10.4103/0976-237x.79287