A commentary on Diagnostic and follow-up system for X-linked adrenoleukodystrophy: a comprehensive model for 'treatable' genetic diseases.

摘要

In this issue of the Journal of Human Genetics, Shimozawa et al. describe a comprehensive diagnostic and follow-up system for X-linked adrenoleukodystrophy (X-ALD) in Japan. The authors present a number of mutation types in the causative ABCD1 gene in Japanese patients, and propose that the genetic testing should be used not only for diagnosis in patients with symptoms but also for a presymptomatic diagnosis in at-risk individuals, as an effective therapy, namely hematopoietic stem cell transplantation (HSCT), is available for this disease. The system proposed by the authors, which consists of metabolic and' genetic testing, genetic counseling, therapy and a longitudinal follow-up, will be a model for a genetic disease with effective therapy.