Adenosine monophosphate deaminase 1 deficiency

Title

Other Names:

AMP deaminase 1 deficiency; Myoadenylate deaminase deficiency; AMPD1 deficiency; AMP deaminase 1 deficiency; Myoadenylate deaminase deficiency; AMPD1 deficiency; Myopathy due to myoadenylate deaminase deficiency; MMDD; Adenosine monophosphate deaminase deficiency; AMP deaminase deficiency See More

Categories:

Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases

Summary Summary

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.^[1]

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: 8/23/2016

Symptoms Symptoms

In many people, adenosine monophosphate deaminase 1 (AMPD1) deficiency does not cause any symptoms. The reasons for this are unclear. People who do have symptoms typically have muscle pain (myalgia) or weakness after exercise or prolonged physical activity. They often get tired more quickly and stay tired longer than others. Some people have more severe symptoms, but it is unclear whether these symptoms are due solely to AMPD1 deficiency, or additional factors.^[1]

Last updated: 3/4/2015

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Muscular hypotonia	Occasional (present in 5%-29% of cases)
Rhabdomyolysis	Occasional (present in 5%-29% of cases)
Autosomal recessive inheritance	-
Increased muscle fatiguability	-
Phenotypic variability	-

Last updated: 9/1/2017

Cause Cause

Adenosine monophosphate deaminase 1 (AMPD1) deficiency is caused by changes (mutations) in the AMPD1 gene. This gene gives the body instructions to make an enzyme called AMP deaminase, which plays a role in producing energy in skeletal muscle cells. Mutations in the AMPD1 gene disrupt the function of AMP deaminase, which impairs the ability of muscle cells to make energy. This lack of energy can lead to the muscle problems associated with AMPD1 deficiency.^[1]

Other types of AMPD deficiency are known as the acquired type (due to a different 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

Inheritance Inheritance

This condition is inherited in an autosomal recessive manner, which means that both copies of the responsible gene in each cell must have changes (mutations) for a person to be affected. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as carriers. Carriers are not affected and typically do not have signs and symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% chance to be unaffected and not be a carrier.

There are many people who have mutations in both copies of the gene responsible for AMPD1 deficiency, but do not have any signs or symptoms (are unaffected). The reasons for this are unclear.^[1]

Last updated: 3/4/2015

Treatment Treatment

Although there is no cure for AMP1 deficiency, there may be ways to manage symptoms. One possibility is the use of a sugar called D-ribose.^[2]^[3]^[4] This sugar is easily absorbed in digestive system and rapidly cleared by metabolic pathways. It may provide an additional source of energy for muscle' however, the helpful effects of D-ribose are short-term.^[3]^[4]

Last updated: 9/6/2016

Prognosis Prognosis

People with this condition may first develop symptoms during childhood, adolescence, or as young or older adults. Many people do not have any symptoms. Those with symptoms typically have only rapid fatigue, cramps or muscle pain (myalgia) after exercising.^[5] In some cases, symptoms may progress over the first few years, but then the condition usually stabilizes (does not get worse).^[5] In many people, it is not progressive at all.^[6] There are no known consistent complications of the condition.^[6] There is no evidence of muscular dystrophy or muscular wasting in affected people, and it does not affect smooth muscle or other organs (only skeletal muscle). Life expectancy is not shortened.^[5]

Last updated: 3/4/2015

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Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Adenosine monophosphate deaminase 1 deficiency. 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.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
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.
Orphanet
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.

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Does this disease affect your life span? Will it affect how you live your daily life? See answer
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References References

Adenosine monophosphate deaminase deficiency. Genetics Home Reference (GHR). July 2008; http://ghr.nlm.nih.gov/condition=adenosinemonophosphatedeaminasedeficiency.
Gross M. Orphanet. September 2001; http://www.orpha.net/data/patho/GB/uk-AMPD.pdf. Accessed 5/12/2009.
Sabina RL, Holmes EW. Myoadenylate Deaminase Deficiency. The Molecular and Metabolic Bases of Genetic Diseases, 8th edition. New York, NY: McGraw Hill; 2001;
Harris JC. Chapter 89 - Disorders of Purine and Pyrimidine Metabolism. Nelson Textbook of Pediatrics, 18th edition. Saunders; 2007;
Manfred Gross. Adenosine monophosphate deaminase deficiency. Orphanet. February, 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=45.
Sabina RL. Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation. Neurol Clin. February, 2000; 18(1):185-194.