ABSTRACT
The mucopolysaccharidoses are genetically determined disorders in which acid mucopolysaccharides, known chemically as glycosaminoglycans, are stored in the tissues [1, 2] and excreted in large quantities in the urine [3]. Storage in tissues leads to effects on a wide variety of systems and to remarkable changes in morphogenesis. Among these striking effects are the alterations in the appearance of the patient that are classically represented in Hurler syndrome (Chapter 76). The elucidation of these disorders has provided clear evidence that even bizarre dysmorphic changes can be caused by single gene defects that interfere with body chemistry. They provide important models of the interaction of structure and function in humans. Mental retardation and early demise, prior to ten years of age in Hurler syndrome, are the most devastating consequences of mucopolysaccharide accumulation in the central nervous and cardiovascular systems.
