Diagnosis of Peroxisomal Disorders

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