J Pediatr Neurol
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

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]