X-Linked Disorders:

Fabry disease is classified as a lysosomal storage disease and can be caused by multiple types of pathogenic changes in the gene GLA. GLA is located on the X chromosome and can be altered through deletions, insertions, missense or nonsense mutations, splice-site anomalies, and reassortment of the DNA. Fabry disease causes progressive damage to the heart, kidneys, skin, eyes, central nervous system, and gastrointestinal system, which can eventually lead to organ failure (16).

Fabry disease affects molecular structures within each cell called the lysosomes, which function by digesting foreign, or damaged materials, like viruses, bacteria, and old cell parts (15). GLA encodes for the α-GAL enzyme that digests globotriaosylceramide (Gb3) into galactose. When the gene stops functioning the α-GAL enzyme globotriaosylceramide (Gb3) is not produced and Gb3 accumulates within cellular lysosomes.

Written by Abigail Sayers; Images by Abigail Sayers unless otherwise noted

Reviewed and Edited by Rachel Baer, MSc, and Andy McCarty, MS, LGC, CGC

Learn More About Genetics:

• Sample Types

• Prenatal and Fetal Testing

• Aneuploidies

• Cytogenetics

Learn More About the X Chromosome:

• The X Chromosome

• X and Y Chromosomal Aneuploidies

• DMD and BMD

• Hemophilia A

• Alport Syndrome

• Fragile X Syndrome

• X-Linked Charcot-Marie-Tooth (CMTX)