The Enzymic Defects in Morquio and Maroteaux-Lamy Syndrome

  • Albert Dorfman
  • Bradley Arbogast
  • Reuben Matalon
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 68)


The mucopolysaccharidoses are a group of heritable diseases which result from defective degradation of glycosaminoglycans. Since the original descriptions of Hunter and Hurler (15,16), there has been an extensive clinical and biochemical literature. The earlier studies have been reviewed elsewhere (10, 25, 33). Studies during the last few years have elucidated the enzyme defects in Hurler, Scheie, Hunter and Sanfilippo A and B diseases (9,26). More recently, several reports have appeared concerned with defects in Maroteaux-Lamy and Morquio diseases (2,4,12,13,23,24,27,31). These two syndromes are distinguished from the other mucopolysaccharidoses by lack of mental retardation in the presence of severe somatic changes. Maroteaux {ulet al}. (22) described a group of patients with marked somatic defects and no mental retardation except that which occurs secondary to the frequent hydrocephalus. In contrast to the excretion of heparan sulfate and dermatan sulfate in Hurler disease, patients with Maroteaux-Lamy disease excrete only dermatan sulfate. Morquio disease is manifested by spondoepiphyseal dysplasia and corneal clouding.


Heparan Sulfate Chondroitin Sulfate Dermatan Sulfate Keratan Sulfate ENZYMIC Defect 
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Copyright information

© Plenum Press, New York 1976

Authors and Affiliations

  • Albert Dorfman
    • 1
  • Bradley Arbogast
    • 1
  • Reuben Matalon
    • 1
  1. 1.Departments of Pediatrics and Biochemistry, and the Joseph P. Kennedy, Jr., Mental Retardation Research CenterPritzker School of Medicine, University of ChicagoChicagoUSA

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