, Volume 30, Issue 2, pp 193-197
Date: 08 Mar 2007

Molecular and clinical aspects of peroxisomal diseases

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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.

Communicating editor: Verena Peters
Competing interests: None declared