Other Names for this Disease
- Alpha-l-fucosidase deficiency
- Lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues
Tests & Diagnosis
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Meikle, et al. Newborn screening for lysosomal storage disorders: Clinical evaluation of a two-tier strategy. Pediatrics 2004;114:909-916.