Disorders of Mucopolysaccharide Metabolism

  • Gideon Bach


The mucopolysaccharidoses are progressive disorders involving multiple organ systems and the excretion and storage of excess mucopolysaccharides (McKusick and Neufeld, 1982). The mode of inheritance is autosomal recessive for all except one, Hunter syndrome, where sex-linked inheritance is the rule. The abnormal storage is caused by the impairment of mucopolysaccharide catabolism, and specific hydrolase deficiencies account for the widely varying severity and phenotypes observed with these disorders. Fifteen types and subtypes of mucopolysaccharidoses have been characterized (Table I) (McKusick and Neufeld, 1982).


Heparan Sulfate Prenatal Diagnosis Keratan Sulfate Hunter Syndrome Amniotic Fluid Cell 
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Copyright information

© Aubrey Milunsky 1986

Authors and Affiliations

  • Gideon Bach
    • 1
  1. 1.Department of Human GeneticsHadassah-Hebrew University Medical CenterJerusalemIsrael

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