Hurler's syndrome

✍ Scribed by Karl Meyer; Philip Hoffman

• Book ID: 102749760
• Publisher: John Wiley and Sons
• Year: 1961
• Tongue: English
• Weight: 592 KB
• Volume: 4
• Category: Article
• ISSN: 0004-3591
• DOI: 10.1002/art.1780040510

✦ Synopsis

URLER'S SYNDROME is the only heritable disorder of the connective H tissues in which a severe disturbance of mucopolysaccharides has been conclusively demonstrated. When one considers the considerable number of the mucopolysaccharides and their varied patterns in different tissues, it seems surprising that inherited disturbances involving the mucopolysaccharides are not more frequently encountered. The reasons for this are twofold: (1) Severe genetic defects in the biosynthesis of these compounds would presumably be lethal at a very early stage of embryonal development. and ( 2 ) milder defects such as production of chemically altered mucopolysaccharides are difficult to detect for methodologic reasons. Thus, the identification of mucopolysaccharides can only be carried out by isolation, purification, followed by chemical, physical and enzymatic analysis. Such identification is at best tedious and requires large quantities of tissues. The probability of detecting minor modifications of the polysaccharides is therefore very small. 'We thank Dr. Ruth Hams for the clinical data.