Molecular and clinical aspects of peroxisomal diseases.

Abstract

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 beta-oxidation enzyme deficiencies and more than 100 patients with adrenoleukodystrophy. Further study of and enlightenment on peroxisomal diseases is necessary to overcome these disorders.

• Authors: N Shimozawa
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 30 Issue 2 Pg. 193-7 (Apr 2007) ISSN: 1573-2665 [Electronic] United States
• PMID: 17347916 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)

Topics

• Humans
• Japan (epidemiology)
• Peroxisomal Disorders (classification, diagnosis, epidemiology, genetics)
• Prevalence