Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I
نویسندگان
چکیده
منابع مشابه
Echocardiographic abnormalities in type IV mucopolysaccharidosis.
Cardiac involvement is well recognised in most forms of the mucopolysaccharidoses but there is poor documentation of abnormalities specific to Morquio's syndrome (type IV mucopolysaccharidosis). Ten patients with the classic form or type A Morquio's syndrome with a median age of 12.5 years underwent echocardiographic assessment. Abnormalities were detected in six (60%) cases with mitral valve i...
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 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...
متن کاملDelayed Diagnosis of an Attenuated form of Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome) via MRI of the Cervical Spinal Cord
Introduction: We present the unexpected findings of a 59-years-old female patient who was admitted for an imaging investigation after the exclusion of rheumatoid arthritis and recurring carpal tunnel syndrome she was operated on both hands several years earlier. Case presentation: Magnetic resonance imaging of the cervical spine revealed severe scoliosis in the cervicothoracic junction with bic...
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ژورنال
عنوان ژورنال: Journal of Inherited Metabolic Disease
سال: 2007
ISSN: 0141-8955,1573-2665
DOI: 10.1007/s10545-007-0586-y