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DOI: 10.1055/s-0039-1692137
Diagnosis of Peroxisomal Disorders
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]