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Peroxisomal Disorders

  • G. V. Raymond
  • P. Watkins
  • S. Steinberg
  • J. Powers

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).

Keywords

Phytanic Acid Bile Acid Synthesis Zellweger Syndrome Peroxisomal Disorder Very Long Chain Fatty Acid 
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.

List of 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

Notes

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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© Springer Science+Business Media, LLC 2009

Authors and Affiliations

  • G. V. Raymond
  • P. Watkins
  • S. Steinberg
  • J. Powers

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