Newborn screening initiatives have found an unexpectedly high prevalence of the disease, as high as one in about 3,100 newborns in Italy and have identified a surprisingly high frequency of newborn males around one in 1,500 in Taiwan. Research
Enzyme replacement therapy: Replacement of the missing enzyme to clear the lipids (GL-3) from the cells
Substrate synthesis inhibition, also called substrate reduction therapy: Inhibits the production of the lipid (GL-3) that accumulates in the cells
Chaperone therapy: Uses small-molecule drugs that bind to the defective enzyme and stabilize it to increase enzyme activity and increase cellular function
Gene editing: Technology that can potentially cut and fix a broken gene in a cell
Gene therapy: Genetically modifies the affected cells to produce the missing enzyme. History
Fabry disease was first described by  dermatologist Johannes Fabry and  surgeon William Anderson independently in 1898. It was recognised to be due to abnormal storage of lipids in 1952. In the 1960s, the inheritance pattern was established as being X-linked, as well as the molecular defect responsible for causing the accumulation of glycolipids.Ken Hashimoto published his classic paper on his electron microscopic findings in Fabry disease in 1965.The first specific treatment for Fabry disease was approved in 2001. Society and culture
House ("Epic Fail", season six, episode three) centers on a patient with Fabry disease. Scrubs ("My Catalyst", season three, episode 12) features a Fabry disease diagnosis. Crossing Jordan ("Theres No Place Like Home", season two, episode one) features a patient who died from Fabry disease.
Streptozotocin is similar enough to glucose to be transported into the cell by the glucose transport protein GLUT2, but is not recognized by the other glucose transporters. This explains its relative toxicity to beta cells, since these cells have relatively high levels of GLUT2. History
Streptozotocin was originally identified in the late 1950s as an antibiotic. The drug was discovered in a strain of the soil microbe Streptomyces achromogenes by scientists at the drug company Upjohn (now part of Pfizer) in Kalamazoo, Michigan. The soil sample in which the microbe turned up had been taken from Blue Rapids, Kansas, which can therefore be considered the birthplace of streptozotocin. Upjohn filed for patent protection for the drug in August 1958 and U.S. Patent 3,027,300 was granted in March 1962. In the mid-1960s, streptozotocin was found to be selectively toxic to the beta cells of the pancreatic islets, the cells that normally regulate blood glucose levels by producing the hormone insulin. This suggested the drugs use as an animal model of diabetes, and as a medical treatment for cancers of the beta cells. In the 1960s and 1970s, the National Cancer Institute investigated streptozotocins use in cancer chemotherapy. Upjohn filed for FDA approval of streptozotocin as a treatment for pancreatic islet cell cancer in November 1976, and approval was granted in July 1982. The drug was subsequently marketed as Zanosar.