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Biochim Biophys Acta. 2016 May;1863(5):922-33. doi: 10.1016/j.bbamcr.2015.11.015. Epub 2015 Nov 22.

Human disorders of peroxisome metabolism and biogenesis.

Author information

1
Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, The Netherlands. Electronic address: h.r.waterham@amc.uva.nl.
2
Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, The Netherlands.

Abstract

Peroxisomes are dynamic organelles that play an essential role in a variety of cellular catabolic and anabolic metabolic pathways, including fatty acid alpha- and beta-oxidation, and plasmalogen and bile acid synthesis. Defects in genes encoding peroxisomal proteins can result in a large variety of peroxisomal disorders either affecting specific metabolic pathways, i.e., the single peroxisomal enzyme deficiencies, or causing a generalized defect in function and assembly of peroxisomes, i.e., peroxisome biogenesis disorders. In this review, we discuss the clinical, biochemical, and genetic aspects of all human peroxisomal disorders currently known.

KEYWORDS:

Biogenesis; Enzyme deficiencies; Metabolism; PEX genes; Peroxisomes; Zellweger spectrum disorders

PMID:
26611709
DOI:
10.1016/j.bbamcr.2015.11.015
[Indexed for MEDLINE]
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