Fabry disease in infancy and early childhood: A systematic literature review

Dawn A. Laney, Dawn S. Peck, Andrea M. Atherton, Linda P. Manwaring, Katherine M. Christensen, Suma P. Shankar, Dorothy K. Grange, William R. Wilcox, Robert J. Hopkin

Research output: Contribution to journalReview articlepeer-review

69 Scopus citations


Fabry disease is a pan-ethnic, progressive, X-linked genetic disorder that commonly presents in childhood and is caused by deficient activity of the lysosomal enzyme alpha-galactosidaseA (α-gal A). Symptoms of Fabry disease in the pediatric population are well described for patients over five years of age; however, data are limited for infancy and early childhood. The purpose of this article is to delineate the age of detection for specific Fabry symptoms in early childhood.Methods:A systematic retrospective analysis of PubMed indexed, peer-reviewed publications and case reports in the pediatric Fabry population was performed to review symptoms in patients reported before 5 years of age.Results:The most frequently reported symptom in all age groups under 5 years was acroparesthesias/neuropathic pain, reported in 9 children, ranging in age from 2.0-4.0 years. Also notable is the frequency of gastrointestinal issues reported in 6 children aged 1.0-4.1 years of age.Conclusion:This article finds clear evidence that symptoms can occur in early childhood, before age 5 years. Given early presenting symptoms and the ability to monitor these disease hallmarks, a timely referral to a medical geneticist or other specialty clinician experienced in managing children with Fabry disease is strongly indicated.

Original languageEnglish
Pages (from-to)323-330
Number of pages8
JournalGenetics in Medicine
Issue number5
StatePublished - May 8 2015


  • Disease
  • children
  • newborn screening
  • pediatric
  • symptoms


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