Adenosine monophosphate deaminase deficiency muscle type

An autosomal recessive deficiency of the purine salvage enzyme adenosine deaminase which results in Severe Combined Immunodeficiency Disease (SCID). The most common form of SCID, accounting for about 50% of autosomal recessive cases. The first disease for which gene therapy was applied.

Disease Alternative Name

adenosine deaminase deficiency

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