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Molecular and clinical aspects of peroxisomal diseases

  • ICIEM 2006
  • Published:
Journal of Inherited Metabolic Disease

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.

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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

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Authors and Affiliations

  1. Division of Genomics Research, Life Science Research Center, Gifu University, Yanagido 1–1, Gifu, 501–1193, Japan

    N. Shimozawa

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  1. N. Shimozawa
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Corresponding author

Correspondence to N. Shimozawa.

Additional information

Communicating editor: Verena Peters

Competing interests: None declared

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Shimozawa, N. Molecular and clinical aspects of peroxisomal diseases. J Inherit Metab Dis 30, 193–197 (2007). https://doi.org/10.1007/s10545-007-0516-z

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  • DOI: https://doi.org/10.1007/s10545-007-0516-z

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