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Adenosine monophosphate deaminase 1 deficiency

Other Names for this Disease
  • AMP deaminase 1 deficiency
  • Myoadenylate deaminase deficiency
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Adenosine monophosphate (AMP) deaminase deficiency is a condition that can affect the muscles used for movement (skeletal muscles). People with this condition do not make enough of an enzyme called AMP deaminase. Mutations in the AMPD1 gene cause AMP deaminase deficiency. This condition is inherited in an autosomal recessive pattern. Researchers have proposed three types of AMP deaminase deficiency (inherited type, acquired type, and coincidental inherited type), which are distinguished by their symptoms and genetic cause.[1]
Last updated: 5/12/2009


  1. Adenosine monophosphate deaminase deficiency. Genetics Home Reference (GHR). July 2008; Accessed 5/12/2009.
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  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
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