Fabry disease in infancy and early childhood: a systematic literature review.

[fabry disease]

Purpose :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-galactosidase A (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 .Genet Med advance online publication 18 September 2014 Genetics in Medicine (2014 ); doi :10 .1038 /gim .2014 .120 .