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Peroxisomal Disorders

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Handbook of Neurochemistry and Molecular Neurobiology

Abstract:

Peroxisomal disorders are divided into the two categories: (1) disorders of peroxisome assembly or peroxisome biogenesis disorders (PBD) and (2) single protein defects (it may be better to refer to these as single protein defects, since ABCD1 encodes a protein that appears to be a transporter and not an enzyme) (Raymond, 2001). In the first, the peroxisome fails to form and there are abnormalities of multiple peroxisomal enzymes. It is now understood that these disorders are defects in protein importation or membrane incorporation. The PBDs can be further divided by their clinical and biochemical features into the Zellweger spectrum disorders (ZSD) and rhizomelic chondrodysplasia punctata (RCDP).

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Abbreviations

ACOX1:

acyl-CoA oxidase deficiency

ACSVL1:

very long-chain acyl-CoA synthetase

ADHAPS:

alkyl-DHAP synthase

AMN:

adrenomyeloneuropathy

ARD:

adult refsum disease

CNS:

central nervous systems

CTLs:

cytotoxic lymphocytes

DBP:

D-bifunctional enzyme deficiency

DHA:

docosahexaenoic acid

DHAP:

dihydroxyacetone phosphate

DHAPAT:

dihydroxyacetonephosphate acyltransferase

DHCA:

dihydroxycholestanoic acid

DPA:

docosapentaenoic acid

DRG:

dorsal root ganglia

FAR:

fatty acyl-CoA reductase

HMG-CoA:

β-Hydroxy-β-methylglutaryl-CoA

HNE:

hydroxynonenal

I-CAM:

intercellular adhesion molecules

IRD:

infantile Refsum disease

LBP:

L-bifunctional protein

α-MACR:

α-methylacyl-CoA racemase

MRS:

magnetic resonance spectroscopy

NALD:

neonatal adrenoleukodystrophy

PAS:

periodic acid-Schiff

PBD:

peroxisome biogenesis disorders

PEX:

peroxisome assembly

PNS:

peripheral nervous systems

RCDP:

rhizomelic chondrodysplasia punctata

SCPx:

sterol carrier protein-X

THCA:

trihydroxycholestanoic acid

TNF:

tumor necrosis factor

VLCFA:

very long chain fatty acids

WM:

white matter

ZS:

Zellweger syndrome

ZSD:

Zellweger spectrum disorders

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Acknowledgments

This Chapter is dedicated to Professor Hugo Moser, who promoted interdisciplinary research in peroxisomal disorders. Dr. Moser was initially involved in the preparation of this chapter but painfully passed away at the beginning of 2007. Ann, Hugo’s wife, was so kind and alert to have some of Hugo’s coworkers writing the different sections of the Chapter. This very nice Ann’s trait is most gratefully appreciated. Our thanks also go to Annette Snitcher.

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  1. G. V. Raymond
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  2. P. Watkins
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  3. S. Steinberg
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  4. J. Powers
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Editors and Affiliations

  1. Center for Neurochemistry, Nathan S. Kline Institute for Psychiatric Research, 140 Old Orangeburg Road, 10962, Orangeburg, New York, USA

    Abel Lajtha (Director) (Director)

  2. Department of Medical Chemistry, Biochemistry and Biotechnology, Via Saldini 50, 20133, Milan, Italy

    Guido Tettamanti

  3. Department of Internal Medicine Section of Biochemistry, University of Perugia, via del Giochetto, 06122, Perugia, Italy

    Gianfrancesco Goracci

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Raymond, G.V., Watkins, P., Steinberg, S., Powers, J. (2009). Peroxisomal Disorders. In: Lajtha, A., Tettamanti, G., Goracci, G. (eds) Handbook of Neurochemistry and Molecular Neurobiology. Springer, Boston, MA. https://doi.org/10.1007/978-0-387-30378-9_26

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