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The Enzymic Defects in Morquio and Maroteaux-Lamy Syndrome

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Current Trends in Sphingolipidoses and Allied Disorders

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 68))

Abstract

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.

Joseph P. Kennedy, Jr. Scholar

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Author information

Author notes

  1. Bradley Arbogast

    Present address: General Clinical Research Center, Pennsylvania General Hospital, Philadelphia, Pennsylvania, 19104, USA

Authors and Affiliations

  1. Departments of Pediatrics and Biochemistry, and the Joseph P. Kennedy, Jr., Mental Retardation Research Center, Pritzker School of Medicine, University of Chicago, Chicago, Illinois, 60637, USA

    Albert Dorfman, Bradley Arbogast & Reuben Matalon

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  1. Albert Dorfman
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  2. Bradley Arbogast
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  3. Reuben Matalon
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Editor information

Editors and Affiliations

  1. Kingsbrook Jewish Medical Center, Isaac Albert Research Institute, USA

    Bruno W. Volk

  2. Downstate Medical Center, State University of New York, USA

    Bruno W. Volk  & Larry Schneck  & 

  3. Neuroscience Center, Kingsbrook Jewish Medical Center, USA

    Larry Schneck

  4. Birth Defects Center, Isaac Albert Research Institute, USA

    Larry Schneck

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© 1976 Plenum Press, New York

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Dorfman, A., Arbogast, B., Matalon, R. (1976). The Enzymic Defects in Morquio and Maroteaux-Lamy Syndrome. In: Volk, B.W., Schneck, L. (eds) Current Trends in Sphingolipidoses and Allied Disorders. Advances in Experimental Medicine and Biology, vol 68. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-7735-1_18

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  • DOI: https://doi.org/10.1007/978-1-4684-7735-1_18

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4684-7737-5

  • Online ISBN: 978-1-4684-7735-1

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