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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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Overview
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]
References
- Adenosine monophosphate deaminase deficiency. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition=adenosinemonophosphatedeaminasedeficiency. Accessed May 12, 2009.
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General Information
- Genetics Home Reference (GHR) contains information on Adenosine monophosphate deaminase 1 deficiency. Click on the link to go to GHR and review the information.
- The Merck Manuals Online Medical Library provides information on this condition. Click on the link to view the information.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Adenosine monophosphate deaminase 1 deficiency. Click on the link to go to OMIM and review these resources.