History
As of 2004, about 60 patients had been diagnosed with ASL deficiency, but many more are thought to be undiagnosed, due to the heterogeneity of the disease and a paucity of general screening. Patients have been diagnosed from a number of areas around the world, although a large number of them are from the Low Countries. ASL deficiency rose to prominence in the well documented case of Michael Dignan, a developmentally challenged youth. There is yet no cure for this deficiency.
Read more about this topic: Adenylosuccinate Lyase Deficiency
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