α-Galactosidase A Deficiency (Full Gene Sequencing)

Fabry disease (Anderson-Fabry disease, α-galactosidase A deficiency) is a rare, panethnic, X-linked recessive lysosomal storage disorder (LSD) characterized by a deficiency in acid α-galactosidase A caused by mutations in the GLA gene. Deficiency of this enzyme leads to accumulation of glycogen within the lysosomes and cytoplasm resulting in tissue damage. Fabry disease is rare and occurs in an estimated 1 in 100,000 newborns. Since the disorder is an X-linked recessive disease, the mother has a 50% chance of passing the defective gene on to all offspring. Males who inherit the defective gene will have Fabry disease. Females who inherit the gene will be carriers. Because of X-chromosomal inactivation, some female carriers develop symptoms of mild, moderate, or classical Fabry disease. To date, more than 300 mutations and sequence variants have been identified, the majority being very rare.