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Genetic and Rare Diseases Information Center (GARD)

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Adenosine monophosphate deaminase 1 deficiency


Other Names for this Disease
  • Adenosine monophosphate deaminase deficiency
  • AMP deaminase 1 deficiency
  • AMP deaminase deficiency
  • AMPD1 deficiency
  • MMDD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Adenosine monophosphate deaminase 1 (AMPD1) deficiency is an inherited condition that can affect the muscles used for movement (skeletal muscles). Many people with AMPD1 deficiency do not have symptoms. People who do have symptoms typically have muscle pain (myalgia), cramping, and weakness after exercise, and often get tired faster than others. Some affected people appear to have more severe symptoms. AMPD1 deficiency is caused by changes (mutations) in the AMPD1 gene and is inherited in an autosomal recessive manner. 

Other types of AMPD deficiency include the acquired type (due to a muscle or joint condition), and the coincidental inherited type (due to both mutations in the AMPD1 gene and a separate muscle or joint disorder).[1]
Last updated: 3/4/2015

References

  1. Adenosine monophosphate deaminase deficiency. Genetics Home Reference (GHR). July 2008; http://ghr.nlm.nih.gov/condition=adenosinemonophosphatedeaminasedeficiency.
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Basic Information

  • Genetics Home Reference (GHR) contains information on the P2RY12 gene and its related conditions. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Merck Manual for health care professionals provides information on Adenosine monophosphate deaminase 1 deficiency.
  • Online Mendelian Inheritance in Man (OMIM) is a 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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    Orphanet
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Adenosine monophosphate deaminase 1 deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Adenosine monophosphate deaminase deficiency
  • AMP deaminase 1 deficiency
  • AMP deaminase deficiency
  • AMPD1 deficiency
  • MMDD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.