Impaired Maturation of Peroxisomal ß-oxidation Enzymes in Fibroblasts from Patients with the Zellweger Syndrome and Infantile Refsum Disease View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

1986

AUTHORS

A. W. Schram , A. Strijland , T. Hashimoto , R. J. A. Wanders , R. B. H. Schutgens , H. van den Bosch , J. M. Tager

ABSTRACT

In 1973, Goldfischer et al.1 discovered that morphologically distinct peroxisomes are absent in liver and kidney of patients with the cerebrohepato-renal (Zellweger) syndrome, an inherited disease usually leading to death within the first year of life. Peroxisomes are also greatly reduced in number in cultured skin fibroblasts from patients with the classic form of the Zellweger syndrome2. The deficiency of peroxisomes is accompanied by a number of biochemical abnormalities, including an accumulation in tissues and/or body fluids of very long chain fatty acids3 and a deficiency in tissues of plasmalogens4. These biochemical abnormalities are in accordance with recent findings showing that peroxisomes play an essential role in the oxidation of very long chain fatty acids5 and biosynthesis of ether phospholipids6. More... »

PAGES

219-221

Book

TITLE

Enzymes of Lipid Metabolism II

ISBN

978-1-4684-5214-3
978-1-4684-5212-9

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-1-4684-5212-9_31

DOI

http://dx.doi.org/10.1007/978-1-4684-5212-9_31

DIMENSIONS

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