Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry

Pediatr Res. 2008 Nov;64(5):550-5. doi: 10.1203/PDR.0b013e318183f132.


Fabry disease is an X-linked lysosomal disease caused by deficiency of alpha-galactosidase A. Signs and symptoms of Fabry disease occurring during childhood and adolescence were characterized in 352 Fabry Registry patients. At enrollment (median age 12 year), 77% of males and 51% of females reported symptoms. The median age of symptom onset was 6 year in males and 9 year in females. The most frequent symptom, neuropathic pain, was reported by 59% of males (median age 7 year) and 41% of females (median age 9 year). Gastrointestinal symptoms were reported by 18% of children (median age 5 year in males and 9.5 year in females). Males exhibited height and weight values below the US 50th percentile. Females had weight values above the US 50th percentile. A few patients had serious renal and cardiac manifestations, stage 2 or 3 chronic kidney disease (n = 3), arrhythmia (n = 9), and left ventricular hypertrophy (n = 3). Thus, many pediatric Fabry patients report early symptoms, particularly pain, gastrointestinal symptoms, and impaired quality of life. Some children experience major complications during the pediatric years.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Age of Onset
  • Arrhythmias, Cardiac / etiology
  • Body Height
  • Body Temperature Regulation
  • Body Weight
  • Child
  • Child, Preschool
  • Chronic Disease
  • Fabry Disease / complications*
  • Fabry Disease / drug therapy
  • Fabry Disease / physiopathology
  • Female
  • Gastrointestinal Diseases / etiology
  • Humans
  • Hypertrophy, Left Ventricular / etiology
  • Infant
  • Kidney Diseases / etiology
  • Male
  • Neuralgia / etiology
  • Quality of Life
  • Registries* / statistics & numerical data
  • Sweating
  • alpha-Galactosidase / therapeutic use


  • alpha-Galactosidase