Molecular and clinical aspects of peroxisomal diseases.
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.
Shimozawa
N
N
Division of Genomics Research, Life Science Research Center, Gifu University, Yanagido 1-1, Gifu, 501-1193, Japan. nshim@gifu-u.ac.jp
D006801:Humans; D007564:Japan / Q000453:epidemiology; D018901:Peroxisomal Disorders / Q000145:classification* / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D015995:Prevalence