title: Fabry disease in infancy and early childhood: a systematic literature review.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Medical Genetics, Department of Human Genetics, Decatur, Georgia, USA.
authors.forename: Dawn A
authors.initials: DA
authors.lastname: Laney
authors.affiliation: Division of Medical Genetics, University of Missouri Children's Hospital, University of Missouri Health System, Columbia, Missouri, USA.
authors.forename: Dawn S
authors.identifier: 000000032783792X
authors.initials: DS
authors.lastname: Peck
authors.affiliation: Section of Genetics, Children's Mercy Hospitals, Kansas City, Missouri, USA.
authors.forename: Andrea M
authors.initials: AM
authors.lastname: Atherton
authors.affiliation: Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri, USA.
authors.forename: Linda P
authors.initials: LP
authors.lastname: Manwaring
authors.affiliation: Division of Medical Genetics, SSM Cardinal Glennon Children's Medical Center, St. Louis, Missouri, USA.
authors.forename: Katherine M
authors.initials: KM
authors.lastname: Christensen
authors.affiliation: Division of Medical Genetics, Department of Human Genetics, Decatur, Georgia, USA.
authors.forename: Suma P
authors.initials: SP
authors.lastname: Shankar
authors.affiliation: Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri, USA.
authors.forename: Dorothy K
authors.initials: DK
authors.lastname: Grange
authors.affiliation: Division of Medical Genetics, Department of Human Genetics, Decatur, Georgia, USA.
authors.forename: William R
authors.initials: WR
authors.lastname: Wilcox
authors.affiliation: Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Missouri, USA.
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Hopkin
mesh_terms: D000367:Age Factors; D002675:Child, Preschool; D000795:Fabry Disease / Q000175:diagnosis / Q000453:epidemiology* / Q000628:therapy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015997:Neonatal Screening; D010641:Phenotype; D011296:Prenatal Diagnosis; D012189:Retrospective Studies