BACKGROUND Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome; MPS VI) is an autosomal recessive lysosomal storage disorder in which deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B; ARSB) leads to the storage of glycosaminoglycans (GAGs) in connective tissue. The genotype-phenotype correlation has been addressed in several publications but the picture is not complete. Since...

conference held during October 1979 in Toronto, brings together a wealth of information added to our understanding of the molecular biology of the lysosome. The first two chapters concisely review aspects of the genetics and metabolic regulation of lysosomal enzyme activity. The following group of papers, in logical sequence, trace newer developments in the mechanisms of membrane glycoprotein s...

Mucopolysaccharidosis VI (MPS VI) is a clinically heterogeneous and progressive disorder with multiorgan manifestations caused by deficient N-acetylgalactosamine-4-sulfatase activity. A cross-sectional Survey Study in individuals (n = 121) affected with MPS VI was conducted between 2001 and 2002 to establish demographics, urinary glycosaminoglycan (GAG) levels, and clinical progression of disea...

No case of complete monosomy for a human autosome has as yet been reported. Examples of the trisomic condition which is produced by the same mechanism of non-disjunction are, however, relatively frequent. It must be assumed, therefore, that the monosomic state is less viable than the trisomic. Partial monosomic conditions have been described, some of which are related to a definite syndrome spe...