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Deficiencies in Ether Glycerolipids and Their Biosynthesis in Inherited Peroxisomal Disorders

  • H. van den Bosch
  • G. Schrakamp
  • H. S. A. Heymans
  • R. J. A. Wanders
  • J. M. Tager
  • R. B. H. Schutgens
Part of the NATO ASI Series book series (NSSA, volume 116)

Abstract

The cerebro-hepato-renal (Zellweger) syndrome is a rare autosomal recessive inborn error of metabolism. Clinically, the Zellweger Syndrome (ZS) is characterized by craniofacial malformations, severe generalized hypotonia, hepatomegaly, disturbances in liver function, renal cysts, and severe psychomotor retardation (1,2). The ZS is usually lethal with death occurring in the first year of life, although several patients are known who have survived for considerably longer periods. Biochemical studies have shown disturbances in the metabolism of pipecolic acid (1), bile acids (3), and the β-oxidation of very long chain fatty acids (4). Goldfischer et al. (5) described in 1973, that morphologically distinct peroxisomes were absent in liver and kidney of ZS patients.

Keywords

Pipecolic Acid Zellweger Syndrome Amniotic Fluid Cell Peroxisomal Disorder Refsum Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Plenum Press, New York 1986

Authors and Affiliations

  • H. van den Bosch
    • 1
  • G. Schrakamp
    • 1
  • H. S. A. Heymans
    • 2
  • R. J. A. Wanders
    • 2
  • J. M. Tager
    • 3
  • R. B. H. Schutgens
    • 2
  1. 1.Laboratory of BiochemistryState University of UtrechtUtrechtThe Netherlands
  2. 2.Department of PaediatricsUniversity Hospital AmsterdamAmsterdamThe Netherlands
  3. 3.Laboratory of BiochemistryUniversity of AmsterdamAmsterdamThe Netherlands

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