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Disease Profile
N-acetylglutamate synthase deficiency
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
All ages
ICD-10
E72.2
Inheritance
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.
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.
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)
Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency; NAGS deficiency; NAG synthetase deficiency;
Categories
Congenital and Genetic Diseases; Metabolic disorders; RDCRN
Summary
N-acetylglutamate synthase deficiency (NAGS) is type of
Signs and symptoms in newborns with NAGS may include a lack of energy, unwillingness to eat,
Symptoms
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
|
---|---|---|
30%-79% of people have these symptoms | ||
Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
Nausea | 0002018 | |
Vomiting |
Throwing up
|
0002013 |
5%-29% of people have these symptoms | ||
Acute hyperammonemia | 0008281 | |
Agitation | 0000713 | |
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Coma | 0001259 | |
Drowsiness |
Sleepy
|
0002329 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Global |
0001263 | |
Headache |
Headaches
|
0002315 |
Hyperalaninemia |
Increased blood alanine
Increased serum alanine
[ more ] |
0003348 |
Hyperglutaminemia |
High plasma glutamine
|
0003217 |
Insomnia |
Difficulty staying or falling asleep
|
0100785 |
Lethargy | 0001254 | |
Loss of consciousness |
Passing out
|
0007185 |
Mood changes |
Moody
|
0001575 |
Poor appetite |
Decreased appetite
|
0004396 |
Poor speech | 0002465 | |
0001250 | ||
1%-4% of people have these symptoms | ||
0001251 | ||
Cerebral ischemia |
Disruption of blood oxygen supply to brain
|
0002637 |
Delirium | 0031258 | |
Diarrhea |
Watery stool
|
0002014 |
Echolalia |
Echoing another person's speech
|
0010529 |
0001298 | ||
Hepatomegaly |
Enlarged liver
|
0002240 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Myelodysplasia | 0002863 | |
Paraplegia |
Leg paralysis
|
0010550 |
Polyneuropathy |
Peripheral nerve disease
|
0001271 |
Psychotic episodes | 0000725 | |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 |
Reye |
0006582 | |
Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ] |
0000733 |
Stroke | 0001297 | |
Percent of people who have these symptoms is not available through HPO | ||
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
0000007 | ||
Confusion |
Disorientation
Easily confused
Mental disorientation
[ more ] |
0001289 |
Hyperammonemia |
High blood ammonia levels
|
0001987 |
Increased level of L-glutamic acid in blood | 0410068 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Treatment
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Management Guidelines
- GeneReviews provides a current, expert-authored, peer-reviewed, full-text article urea cycle disorders in general that you may find helpful. GeneReview articles describe the application of
genetic testing to the diagnosis, management, andgenetic counseling of patients with specificinherited conditions. - The NORD Physician Guide for N-acetylglutamate synthase deficiency was developed as a free service of the National Organization for Rare Disorders (NORD) and it's medical advisors. The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition.
- Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Carglumic acid(Brand name: Carbaglu) Manufactured by Orphan Europe SARL
FDA-approved indication: As an adjunctive therapy for the treatment of acute hyperammonemia due to the deficiency of the hepaticenzyme N-acetylglutamate synthase (NAGS) and as manitenance therapy for chronic hyperammonemia due to NAGS deficiency.
National Library of Medicine Drug Information Portal
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
The principle differential diagnosis is carbamoylphosphate synthetase deficiency (see this term).
Visit the Orphanet disease page for more information.
|
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 Supporting this Disease
-
Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org -
National Urea Cycle Disorders Foundation
75 South Grand Avenue
Pasadena, CA 91105
Toll-free: 800-38-NUDCF (386-8233)
Telephone: +1-626-578-0833
E-mail: info@nucdf.org
Website: https://www.nucdf.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
- MedlinePlus.gov provides more information on urea cycle disorders in general. MedlinePlus is a Web site designed by the National Library of Medicine to help you research your health questions.
- Genetics Home Reference (GHR) contains information on N-acetylglutamate synthase deficiency. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The National Urea Cycle Disorders Foundation, a nonprofit organization that supports urea cycle disorders, offers information on urea cycle disorders, including N-acetylglutamate synthase deficiency
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss N-acetylglutamate synthase deficiency. Click on the link to view a sample search on this topic.
References
- N-acetylglutamate synthase deficiency. Genetics Home Reference. October 2006; https://ghr.nlm.nih.gov/condition=nacetylglutamatesynthasedeficiency.
- What is a Urea Cycle Disorder?. National Urea Cyle Disorders Foundation. https://www.nucdf.org/ucd.htm. Accessed 4/12/2017.
- Mew NA, Lanpher BC, Gropman A, Chapman KA, Simpson KL, Summar ML. Urea Cycle Disorders Overview. GeneReviews. April 9, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1217/.
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