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Molecular and clinical aspects of peroxisomal diseases
Author(s) -
Shimozawa N.
Publication year - 2007
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-007-0516-z
Subject(s) - peroxisome , peroxisomal disorder , zellweger syndrome , adrenoleukodystrophy , human genetics , complementation , biogenesis , biology , gene , genetics , phenotype
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.