Journal of Pediatric Neurology 2020; 18(01): 053
DOI: 10.1055/s-0039-1692137
Letter to the Editor
Georg Thieme Verlag KG Stuttgart · New York

Diagnosis of Peroxisomal Disorders

Beuy Joob
1   Medical Center Department, Sanitation 1, Medical Academic Center, Bangkok, Thailand
,
Viroj Wiwanitkit
2   Department of Biological Science, Joseph Ayo Babalola University, Ikeji-Arakeji, Nigeria
› Author Affiliations
Further Information

Publication History

04 April 2019

21 April 2019

Publication Date:
29 May 2019 (online)

Diagnosis of Peroxisomal Disorders

Peroxisomal Disorders: Experience from a Genetic Center in North India

Dear Editor, we read the recent report by Angurana et al on “Peroxisomal Disorders: Experience from a Genetic Center in North India” with a great interest.[1] Angurana et al described that “clinical confirmation is possible with simple imaging and biochemical investigations.”[1] The conclusion from the few cases in the study by Angurana et al might be missed. In fact, peroxisomal disorder (PD) is a complex clinical problem. The wide spectrum of disease can be seen and the diagnosis usually required the genetic laboratory test.[2] [3] As noted by Wanders et al, “Several novel PDs have been identified recently and in addition it has been realized that the phenotypic spectrum of patients affected by a PD keeps widening, which makes clinical recognition of peroxisomal patients increasingly difficult.”[4]

 
  • References

  • 1 Angurana SK, Suthar R, Panigrahi I. Peroxisomal disorders: experience from a genetic center in North India. J Pediatr Neurol 2019; 17 (02) 65-70
  • 2 Braverman NE, Raymond GV, Rizzo WB. , et al. Peroxisome biogenesis disorders in the Zellweger spectrum: an overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab 2016; 117 (03) 313-321
  • 3 Takashima S, Saitsu H, Shimozawa N. Expanding the concept of peroxisomal diseases and efficient diagnostic system in Japan. J Hum Genet 2019; 64 (02) 145-152
  • 4 Wanders RJ, Klouwer FC, Ferdinandusse S, Waterham HR, Poll-Thé BT. Clinical and laboratory diagnosis of peroxisomal disorders. Methods Mol Biol 2017; 1595: 329-342