Hyperammonemia due to N-acetylglutamate synthase deficiency is type of metabolic disorder that affects the processing of proteins and removal of ammonia from the body. When proteins are processed by the body, ammonia is formed. Individuals with Hyperammonemia due to N-acetylglutamate synthase deficiency are not able to remove ammonia from the body and have symptoms due to toxic levels of ammonia that build up in the blood. Hyperammonemia due to N-acetylglutamate synthase deficiency and other similar disorders are a type of metabolic condition known as a urea cycle disorder. Signs and symptoms in newborns with Hyperammonemia due to N-acetylglutamate synthase deficiency may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. Complications may include coma, developmental delay, and learning disability. Some people have a less severe form of the deficiency with earliest symptoms manifesting later in life, particularly following high-protein meals, illness, or other stress. Signs and symptoms may include sudden vomiting, lack of coordination, confusion, and coma. Hyperammonemia due to N-acetylglutamate synthase deficiency is caused by genetic changes in the NAGS gene and is inherited in an autosomal recessive fashion.
Summary
Hyperammonemia due to N-acetylglutamate synthase deficiency is type of metabolic disorder that affects the processing of proteins and removal of ammonia from the body. When proteins are processed by the body, ammonia is formed. Individuals with Hyperammonemia due to N-acetylglutamate synthase deficiency are not able to remove ammonia from the body and have symptoms due to toxic levels of ammonia that build up in the blood. Hyperammonemia due to N-acetylglutamate synthase deficiency and other similar disorders are a type of metabolic condition known as a urea cycle disorder. Signs and symptoms in newborns with Hyperammonemia due to N-acetylglutamate synthase deficiency may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. Complications may include coma, developmental delay, and learning disability. Some people have a less severe form of the deficiency with earliest symptoms manifesting later in life, particularly following high-protein meals, illness, or other stress. Signs and symptoms may include sudden vomiting, lack of coordination, confusion, and coma. Hyperammonemia due to N-acetylglutamate synthase deficiency is caused by genetic changes in the NAGS gene and is inherited in an autosomal recessive fashion.Hyperammonemia due to N-acetylglutamate synthase deficiency is type of metabolic disorder that affects the processing of proteins and removal of ammonia from the body. When proteins are processed by the body, ammonia is formed. Individuals with Hyperammonemia due to N-acetylglutamate synthase deficiency are not able to remove ammonia from the body and have symptoms due to toxic levels of ammonia that build up in the blood. Hyperammonemia due to N-acetylglutamate synthase deficiency and other similar disorders are a type of metabolic condition known as a urea cycle disorder. Signs and symptoms in newborns with Hyperammonemia due to N-acetylglutamate synthase deficiency may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. Complications may include coma, developmental delay, and learning disability. Some people have a less severe form of the deficiency with earliest symptoms manifesting later in life, particularly following high-protein meals, illness, or other stress. Signs and symptoms may include sudden vomiting, lack of coordination, confusion, and coma. Hyperammonemia due to N-acetylglutamate synthase deficiency is caused by genetic changes in the NAGS gene and is inherited in an autosomal recessive fashion.
Read More
Read Less
Resource(s) for Medical Professionals and Scientists on This Disease:
Orphanetprovides GARD with information for this disease.
RARe-SOURCE™offers rare disease gene variant annotations and links to rare disease gene literature.
GeneReviewsprovides scientific information on genetic diseases, including diagnosis, treatment, and genetic counseling.
About Hyperammonemia due to N-acetylglutamate synthase deficiency
Many rare diseases have limited information. Currently GARD aims to provide the following information for this disease:
Population Estimate:Fewer than 1,000 people in the U.S. have thisdisease.
Symptoms:May start to appear at any time in life.
Cause:This disease is caused by a change in the genetic material (DNA).
Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
When Do Symptoms of Hyperammonemia due to N-acetylglutamate synthase deficiency Begin?
Symptoms of this disease may start to appear at any time in life.
The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms from some diseases may begin at any age. Knowing when symptoms began to appear can help medical providers find the correct diagnosis.
Prenatal Selected
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
1-23 months
Child Selected
2-11 years
Adolescent Selected
12-18 years
Adult Selected
19-65 years
Older Adult Selected
65+ years
Symptoms may start to appear at any time in life.
Symptoms
The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others, and you should consult your primary care provider (PCP) for more information.
This list does not include all possible symptoms related to this disease, but they may include:
Musculoskeletal System Musculoskeletal System
38 Symptoms
Tile View
List View
Tile View
List View
Body Systems
Symptoms related to this disease may affect different systems of the body. Use the 'Filter and Sort' function to learn more about which body system(s) are affected by this disease and their associated symptom(s).
Medical Term
Infantile muscular hypotonia
Frequency
Uncommon
Frequent
Frequent
Always
Description
Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.
Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.
Synonym
Decreased muscle tone in infant; Hypotonia early; Hypotonia in infancy; Hypotonia, early; Infantile hypotonia
Decreased muscle tone in infant; Hypotonia early; Hypotonia in infancy; Hypotonia, early; Infantile hypotonia
38 Symptoms
Causes
What Causes This Disease?
Genetic Changes
Hyperammonemia due to N-acetylglutamate synthase deficiency is caused by harmful genetic changes, also known as pathogenic variants. Genetic changes can occur randomly, as a result of environmental factors, from parents passing them down to their children, or a combination of these. Additionally, they can occur before birth or at any time during a person's life. Learn more about genetic diseases from the National Library of Medicine (NLM).
If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team. This tool from the Surgeon General can help you collect your family health history.
Can This Disease Be Passed Down From Parent to Child?
Yes. It is possible for a biological parent to pass down pathogenic variants that cause or increase the chances of getting this disease to their child. This is known as inheritance. Knowing whether other family members have previously had this disease, also known as family health history, can be very important information for your medical team. This tool from the Surgeon General can help you collect your family health history.
There are multiple ways, or patterns, a disease can be inherited depending on the gene(s) involved. Based on GARD's current pathogenic variant data, this disease can be inherited in the following pattern(s):
Autosomal Recessive
"Autosomal" means the gene involved is located on one of the numbered chromosomes. "Recessive" means that a child must inherit two copies of the pathogenic variant, one from each biological parent, to be affected by the disease. A carrier is a person who only has one copy of the pathogenic variant. A carrier usually doesn't show any symptoms of the disease.
If both biological parents are carriers, there is a 25% their child inherits both copies of the pathogenic variant and is affected by the disease. Additionally, there is a 50% chance their child inherits only one copy of the pathogenic variant and is a carrier.
Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.
Services of patient organizations differ, but may include:
Ways to connect to others and share personal stories
Easy-to-read information
Up-to-date treatment and research information
Patient registries
Lists of specialists or specialty centers
Financial aid and travel resources
Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.
Clinical studies are part of clinical research and at the heart of all medical advances, including rare diseases. Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
Join the All of Us Research Program!
The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
Read More
Read Less
Join the All of Us Research Program!
The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Note, GARD cannot enroll individuals in clinical studies.
Use the contact form to send your questions to a GARD Information Specialist.
Please allow 2 to 10 business days for us to respond.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Note, GARD cannot enroll individuals in clinical studies.
Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.
Data collected from Orphanet and Online Mendelian Inheritance in Man (OMIM) are used to interpret and provide information on rare diseases. This includes names, synonyms, genes, symptom frequency, population estimates and more.
Human Phenotype Ontology (HPO) provides standard terminology that was used by Orphanet and OMIM to represent a disease's phenotypic features. HPO provides information on describing these clinical features.
1-888-205-2311 
