Fabry Disease is a metabolic disorder characterized by insufficient activity of the enzyme alpha-galactosidase A (a-GAL A). The most basic result of this enzyme mutation is the accumulation of the glycolipid globotriasosylceramide (GL-3) in the lysosomes of the affected patient’s cells. This, in turn, causes many bodily dysfunctions that generally present themselves in patients around the age of adolescence which include various forms of organ and tissue damage. The gene for a-GAL A is located on the X sex chromosome which means that Fabry disease is characterized as an X-linked disease. The consequence the gene’s location on the X chromosome is that males with the mutation will be hemizygous for the disease, being that they contain only one X chromosome and therefore one gene copy. Heterozygous females may either be asymptomatic carriers or may express the disease phenotypically; this is possibly due to pattern of X chromosome inactivation in females.
Gene Product …show more content…
The actual a-GAL A enzyme contains 429 amino acid residues in its immature form and 398 in its mature form (the discrepancy is due to its possession of a signal sequence). Mature a-GAL A is in its active form upon self-dimerization to form a homodimer which has a mass of 101kDA. Although Fabry Disease is caused exclusively by mutation of this single enzyme, it is not necessarily limited to any specific mutation. Gene sequencing of the gene for a-GAL A in affected individuals has shown that this disease is caused by a variety of mutations including: nonsense and missense mutations, mRNA spicing errors, gene rearrangement, and sequence deletions (Mehta & Hughes 2010). The severity of Fabry disease may or may not be dictated by the type of mutation observed in individual