The mild form of mucopolysaccharidosis type I (Scheie syndrome) is associated with increased ascending aortic stiffness
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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 کاملCombined aortic and mitral stenosis in mucopolysaccharidosis type I-S (Ullrich-Scheie syndrome).
The genetic mucopolysaccharidosis syndromes (MPS) are autosomal recessive inborn errors of metabolism. Heart valve involvement in MPS is not uncommon but only a few case reports of successful cardiac surgery are available. In particular, reports of combined aortic and mitral stenosis associated with MPS type I-S are very rare. Both type I and type VI MPS are associated with significant left sid...
متن کاملIs Increased Aortic Stiffness Associated with Advanced Ischemic Stroke?
Survivors of a transient ischemic attack (TIA) or stroke have an increased risk of another stroke, which is a major source of increased mortality and morbidity. Among the estimated 700,000 people with stroke in the United States each year, 200,000 of them are among persons with a recurrent stroke. The number of people with TIA, and therefore at risk for stroke, is estimated to be much greater. ...
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 کاملVitamin D Deficiency is Associated with the Metabolic Syndrome in Subjects with Type 2 Diabetes
Background and Objectives: There is convincing evidence that subjects concomitantly affected by type 2 diabetes (T2D) and metabolic syndrome (MeS) are at greater risk for cardiovascular disease (CVD). Many metabolic derangements in T2D might be attributed to poor vitamin D status. The purpose of this study was to investigate the associations among vitamin D status, MeS and glycemic status in su...
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ژورنال
عنوان ژورنال: Heart and Vessels
سال: 2008
ISSN: 0910-8327,1615-2573
DOI: 10.1007/s00380-008-1073-6