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Topical Review: Molecular and Neurologic Findings of Peroxisome Biogenesis Disorders

Division of Genomics Research, Life Science Research Center, Gifu University, nshim{at}cc.gifu-u.ac.jp., Department of Pediatrics, Gifu University School of Medicine

Tomoko Nagase, MD

Department of Pediatrics, Gifu University School of Medicine

Yasuhiko Takemoto, MD

Department of Pediatrics, Gifu University School of Medicine

Michinori Funato, MD

Department of Pediatrics, Gifu University School of Medicine

Naomi Kondo, MD

Department of Pediatrics, Gifu University School of Medicine

Yasuyuki Suzuki, MD

Medical Education Development Center, Gifu University School of Medicine, Gifu, Japan

Peroxisomal disorders, an expanding group of genetic disorders in humans, can be grouped into three categories: peroxisome biogenesis disorders, single peroxisomal enzyme deficiencies, and contiguous gene syndrome. At present, 13 complementation groups of peroxisome biogenesis disorders and their responsible genes have been identified, including our newly identified group with a PEX14 defect. We describe neuronal abnormalities related to deficiencies in peroxisomes and the phenotype-genotype relationship in peroxisome biogenesis disorders. We also identified 32 Japanese patients with peroxisome biogenesis disorders, subdivided into six complementation groups. Our institution acts as the only diagnostic center for studies on peroxisomal disorders in Japan. (J Child Neurol 2005;20:326—329).

Journal of Child Neurology, Vol. 20, No. 4, 326-329 (2005)
DOI: 10.1177/08830738050200041001


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