Adenosine monophosphate deaminase 1 deficiency

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Disease Profile

Unknown

US Estimated

Europe Estimated

Age of onset

All ages

ICD-10

G71.3

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]

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

Not applicable

Other names (AKA)

AMP deaminase 1 deficiency; Myoadenylate deaminase deficiency; AMPD1 deficiency;

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]

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]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Exercise-induced muscle fatigue		0009020
Exercise-induced myalgia	Exercise-induced muscle pain Muscle pain on exercise Muscle pain with exercise Muscle pain, exercise-induced [ more ]	0003738
Limb muscle weakness	Limb weakness	0003690
Muscle spasm		0003394
5%-29% of people have these symptoms
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Rhabdomyolysis	Breakdown of skeletal muscle	0003201
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance		0000007
Increased muscle fatiguability		0003750
Muscle weakness	Muscular weakness	0001324

Do you have updated information on this disease? We want to hear from you.

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]

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]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Providing General Support

Muscular Dystrophy Association (MDA)
222 S Riverside Plaza
Suite 1500
Chicago, IL 60606
Toll-free: 1-833-275-6321 (Helpline)
E-mail: [email protected]
Website: https://www.mda.org
United Mitochondrial Disease Foundation
8085 Saltsburg Road, Suite 201
Pittsburgh, PA 15239
Toll-free: 1-888-317-8633
Telephone: +1-412-793-8077
Fax: +1-412-793-6477
E-mail: [email protected]
Website: https://www.umdf.org

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.

References

Adenosine monophosphate deaminase deficiency. Genetics Home Reference (GHR). July 2008; https://ghr.nlm.nih.gov/condition=adenosinemonophosphatedeaminasedeficiency.
Gross M. Orphanet. September 2001; https://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; https://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.

Rare Cardiology News

Rare Cardiology News

Rare Cardiology News

All ages

G71.3

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

X-linked dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

X-linked recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

Not applicable

Other names (AKA)

Categories

Summary

Symptoms

Cause

Treatment

Organizations

Organizations Providing General Support

Learn more

Where to Start

In-Depth Information

References

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.