Novel Oral Therapy for Fabry Disease in the Riverina Area


Joseph, S

Case Report

Fabry disease is a rare x-linked recessive lysosomal storage disorder due to a deficiency in alpha-galactosidase A enzyme. This deficiency results in the lysosomal accumulation of globotriaosylceramide. Fabry disease is a multisystem disorder that affects the kidneys, heart, brain, nerves and gastrointestinal tract. This case report describes a patient with Fabry disease who has cardiac, renal and neurological manifestations. She was commenced on monotherapy Migalastat 123mg on alternative days after it became available on the Australian Life Saving Drugs Program in November 2018. Migalastat replaced fortnightly infusions of galasidase alfa. The patient described has a genetic mutation making her favorable for this chaperone therapy. Her cells produce some alpha-galactosidase A enzyme that is capable of degrading substrate but is not delivered to lysosomes to reduce globotriaosylceramide. Migalastat binds to and stabilizes alpha-galactosidase A so that it can be trafficked to lysosomes. Once delivered, the alpha-galactosidase A enzyme can degrade the accumulated globotriaosylceramide.