Journal of Inherited Metabolic Disease

, Volume 30, Issue 2, pp 193–197

Molecular and clinical aspects of peroxisomal diseases

ICIEM 2006

DOI: 10.1007/s10545-007-0516-z

Cite this article as:
Shimozawa, N. J Inherit Metab Dis (2007) 30: 193. doi:10.1007/s10545-007-0516-z

Summary

Peroxisomal diseases, an expanding group of inborn errors of metabolism, can be classified into three categories—peroxisome biogenesis disorders (PBDs), single peroxisomal enzyme deficiencies, and contiguous gene syndrome. PBDs comprise 13 complementation groups and their responsible genes have been identified, including our newly identified group with a PEX14 defect. We have established a diagnostic system of peroxisomal diseases in Japan, and have identified 40 Japanese with PBDs, 11 patients with β-oxidation enzyme deficiencies and more than 100 patients with adrenoleukodystrophy. Further study of and enlightenment on peroxisomal diseases is necessary to overcome these disorders.

Abbreviations

ACOX1

straight-chain acyl-CoA oxidase

ALD

adrenoleukodystrophy

AMACR

2-methylacyl-CoA racemase

CADDS

contiguous ABCD1 and DXS1357E deletion syndrome

CG

complementation group

DBP

D-bifunctional protein

IRD

infantile Refsum disease

NALD

neonatal adrenoleukodystrophy

PBD

peroxisome biogenesis disorder

PMP

peroxisomal membrane proteins

PTS1

C-terminal peroxisome targeting sequence

PTS2

N-terminal peroxisome targeting sequence

RCDP

rhizomelic chondrodysplasia punctata

SCPx

sterol carrier protein X

VLCFA

very long-chain fatty acids

ZS

Zellweger syndrome

Copyright information

© SSIEM and Springer 2007

Authors and Affiliations

  1. 1.Division of Genomics Research, Life Science Research CenterGifu UniversityGifuJapan

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