Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.
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چکیده
منابع مشابه
Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families
Mucopolysaccharidosis type I (MPS I) arises from a deficiency in the α-L-iduronidase (IDUA) enzyme. Although the clinical spectrum in MPS I patients is continuous, it was possible to recognize 3 phenotypes reflecting the severity of symptoms, viz., the Hurler, Scheie and Hurler/Scheie syndromes. In this study, 10 unrelated Chinese MPS I families (nine Hurler and one Hurler/Scheie) were investig...
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Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human IDS gene is located in chromosome Xq28. This is the first report of genotype and phenotype characterization of 49 Hunter patients from 40 families of Argentina. Thirty different alleles have been identified, and 57% were novel. The frequency o...
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متن کاملmolecular detection and identification of α-l-iduronidase gene mutations in 5 iranian families suspected for muller syndrome (mucopolysaccharidosis i)
introduction: mucopolysaccharidosis i (mps-i) is an autosomal recessive lysosomal storage diseases, caused by α-l-iduronidase (idua) enzyme deficiency. the clinical manifestations of mps-i patients are variable ranging from severe to mild, and therefore prediction of disease severity is difficult. from when idua gene has been cloned more than 109 distinct mutations have been identified in it an...
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...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1997
ISSN: 1468-6244
DOI: 10.1136/jmg.34.11.939