Peroxisomal disorders (PD) are genetic disorders caused by peroxisome dysfunction and are classified into two groups: genetic defects in peroxisome-localized proteins and genetic defects in peroxisomal biogenesis. The dawn of PD research came with the detailed analysis of the Zellweger syndrome, the prototype of PD. Even recently, new PD are still being identified by whole-exome sequencing analysis, which means that the concept of PD has been expanding. Furthermore, the role of peroxisome in cancer and age-related diseases has also been studied. In contrast, PD pathophysiology and treatment are not clarified yet completely and even in adrenoleukodystrophy, which is the most common PD, the prognosis of phenotype and disease in pre-symptomatic patients is a difficult task.
In this chapter, various types of PD based on patient clinical data will be described, which will be useful to researchers and clinicians. I hope that this chapter will be a valuable aid to many researchers and clinicians in a conjoint effort to overcome this intractable disease.
KeywordsPeroxisome β-oxidation VLCFA Plasmalogens Phytanic acid Zellweger syndrome Adrenoleukodystrophy Whole-exome sequencing
The author would like to thank Dr. Yasuyuki Suzuki for his guidance and collaboration at Gifu University, Dr. Ronald JA Wanders for his helpful comment, and Dr. A. Goto, Dr. K. Maeda, Dr. S. Matsui, Dr. K. Hibino, Dr. Y. Tanabe and Dr. R. Ikema for providing data of the patients, and further thank many patients and their parents for providing the resources.
The author memorializes the death of the late Professor Emeritus Takashi Hashimoto with deep grief. He was our great pioneer in the field of peroxisomal research, and has passed away on April 18th, 2019 at the age of 86. We would like to deeply grateful to him for his great contribution to the elucidation of peroxisomal disorders.
The diagnostic studies of PD are approved by the Ethical Committee of the Graduate School of Medicine, Gifu University.
Conflict of Interest
The author declares no conflict of interest.
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