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Disease Profile
Arginase 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
Infancy
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)
ARG1 deficiency; Hyperargininemia; Argininemia
Categories
Congenital and Genetic Diseases; Metabolic disorders; RDCRN
Summary
Arginase deficiency is an
Symptoms
Signs and symptoms may include:[1][3][2]
- Poor growth (present in all the people who have arginase deficiency)
- Stiff muscles and increased reflexes (
spasticity ) Developmental delay - Loss of previously acquired developmental milestones
Intellectual disability Seizures - Small head size (
microcephaly ) - Problems with balance and coordination
Occasionally, people with arginase deficiency have episodes of severe buildup of ammonia in the blood (hyperammonemia). Although rare, these episodes are more likely to occur following a high
If arginase deficiency is undiagnosed or if the person with the disorder is unable to follow the strict low-protein diet, severe intellectual disability and muscle stiffness may develop, as well as loss of the ability to walk and loss of bladder and bowel control.[3]
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 | ||
Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ] |
0000708 |
Diaminoaciduria | 0008339 | |
Global developmental delay | 0001263 | |
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 |
30%-79% of people have these symptoms | ||
0002353 | ||
Hemiplegia/hemiparesis |
Paralysis or weakness of one side of body
|
0004374 |
Hyperammonemia |
High blood ammonia levels
|
0001987 |
Progressive spastic quadriplegia | 0002478 | |
Seizure | 0001250 | |
1%-4% of people have these symptoms | ||
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Childhood onset |
Symptoms begin in childhood
|
0011463 |
Cholestasis |
Slowed or blocked flow of bile from liver
|
0001396 |
Episodic vomiting | 0002572 | |
Frequent falls | 0002359 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hyperargininemia |
High blood arginine levels
Increased blood arginine concentration
[ more ] |
0500153 |
Micronodular cirrhosis | 0001413 | |
Neonatal onset | 0003623 | |
Portal fibrosis | 0006580 | |
Spastic gait |
Spastic walk
|
0002064 |
Percent of people who have these symptoms is not available through HPO | ||
Anorexia | 0002039 | |
0000007 | ||
Hyperactivity |
More active than typical
|
0000752 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Irritability |
Irritable
|
0000737 |
Oroticaciduria |
High urine orotic acid levels
|
0003218 |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
Spastic paraparesis | 0002313 | |
Vomiting |
Throwing up
|
0002013 |
Cause
Mutations in ARG1 cause absent or reduced levels of functional arginase. As a result, arginine is not broken down properly, urea cannot be produced, and excess nitrogen builds up in the blood as ammonia. Increased levels of ammonia and arginine are thought to cause the many signs and symptoms associated with arginase deficiency.[2]
Compared to other urea cycle disorders, ammonia levels are not as high in arginase deficiency. Typically, ammonia levels are only mildly elevated or even normal in arginase deficiency. Some researchers believe that there may be other factors besides ammonia level involved in the cause of the neurological symptoms of arginase deficiency.[4]
Diagnosis
In some cases, arginase deficiency in a newborn may be suspected if elevated levels of arginine are found through
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Newborn Screening
- An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
- An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics.
- The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.
- Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
- National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
Treatment
Because arginine is a building block of
If people with arginase deficiency have episodes of hyperammonemia, they may be given intravenous (IV) fluids. During an episode of severe hyperammonemia, people with arginase deficiency are generally treated in the hospital. They may require
Management Guidelines
- The NORD Physician Guide for Arginase 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.
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.
- Glycerol phenylbutyrate(Brand name: Ravicti) Manufactured by Horizon Pharma, Inc.
FDA-approved indication: Use as a nitrogen-binding adjunctive therapy for chronic management of adult and pediatric patients at least 2 months of age with urea cycle disorders (UCDs) that cannot be managed by dietary protein restriction and/oramino acid supplementation alone. RAVICTI must be used with dietary protein restriction and, in some cases, dietary supplements (eg, essential amino acids, arginine, citrulline, protein-free calorie supplements).
National Library of Medicine Drug Information Portal
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: [email protected]
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 Arginase 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 Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Arginase Deficiency
Urea Cycle Disorders Overview - 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 Arginase deficiency. Click on the link to view a sample search on this topic.
References
- Schlune A, Vom Dahl S, Häussinger D, Ensenauer R, Mayatepek E. Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature. Amino Acids. September 2015; 47(9):1751-1762. https://www.ncbi.nlm.nih.gov/pubmed/?term=26123990.
- Arginase deficiency. Genetics Home Reference. August 2013; https://ghr.nlm.nih.gov/condition/arginase-deficiency.
- Derek Wong, MD, Stephen Cederbaum, MD, and Eric A Crombez, MD. Arginase Deficiency. GeneReviews. August 2014; https://www.ncbi.nlm.nih.gov/books/NBK1159/.
- Amayreh W, Meyer U & Das A M. Treatment of arginase deficiency revisited: guanidinoacetate as a therapeutic target and biomarker for therapeutic monitoring. Dev Med Child Neurol. 2014; 56:1021–1024. https://www.ncbi.nlm.nih.gov/pubmed/?term=24814679.
- Prasad AN, Breen JC, Ampola MG, Rosman NP. Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review. J Child Neurol. August 1997; 12(5):301-309. https://www.ncbi.nlm.nih.gov/pubmed/?term=9378897.
- Roth KS. Arginase Deficiency. Medscape Reference. September 8, 2015; https://emedicine.medscape.com/article/941838-overview#a5.
- Hereditary urea cycle abnormality. MedlinePlus. 2015; https://medlineplus.gov/ency/article/000372.htm.
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