Diagnosis of Peroxisomal Disorders

  • Nobuyuki ShimozawaEmail author


Conventionally, diagnosis of peroxisomal disorders (PD) has been performed by enzymatic and genetic analysis after measurement of peroxisomal metabolites in blood. With the progress of genome analysis technology accompanying the advent of the next generation sequencer, including whole-exome sequencing (WES), the approach of undiagnosed diseases by comprehensive genomic analysis has become a global trend. In PD also, not only new phenotypes of known pathogenic genes but also newly identified PD have been reported by WES, mainly in the patients with undiagnosed neurological diseases. Therefore, PD diagnostic system combining screening of peroxisomal metabolites and WES should be useful for efficient diagnosis.

On the one hand, diagnosis of adrenoleukodystrophy (ALD) should be done as soon as possible, as early hematopoietic stem cell transplantation is critically important for improving the prognosis of brain-type ALD. We have established a rapid diagnostic system combined with measurement of very long chain fatty acids and detection of ABCD1 mutations. Furthermore, the pre-symptomatic diagnosis by family analysis of probands as well as newborn screening, combined with long-term follow-up system are also important for overcoming this intractable disease. In this chapter, we describe the efficient and prompt approach for diagnosis of PD and ALD and introduce our diagnostic system in Japan.


Peroxisomal disorders VLCFA Plasmalogen Phytanic acid Next generation sequencing Whole-exome sequencing Undiagnosed diseases Chromatography/mass spectrometry Adrenoleukodystrophy Genetic testing Presymptomatic diagnosis Carrier detection ABCD1 Newborn screening 


Ethics Statement

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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Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  1. 1.Division of Genomics Research, Life Science Research CenterGifu UniversityGifuJapan
  2. 2.Department of PediatricsGifu University School of MedicineGifuJapan

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