Rare Endocrinology News
Disease Profile
Ornithine translocase deficiency syndrome
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.
Unknown
Age of onset
Childhood
ICD-10
E72.4
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)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; HHH syndrome; HHHS;
Categories
Congenital and Genetic Diseases; Metabolic disorders; Newborn Screening
Summary
Orpha Number: 415
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal circulating citrulline concentration | 0011965 | |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Hyperammonemia |
High blood ammonia levels
|
0001987 |
Hyperornithinemia |
High blood ornithine levels
|
0012026 |
Neurodevelopmental delay | 0012758 | |
30%-79% of people have these symptoms | ||
Abnormal pyramidal sign | 0007256 | |
Acute |
0006846 | |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Clonus | 0002169 | |
Confusion |
Disorientation
Easily confused
Mental disorientation
[ more ] |
0001289 |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Episodic vomiting | 0002572 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hepatitis |
Liver inflammation
|
0012115 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Impaired vibratory sensation |
Decreased vibration sense
Decreased vibratory sense
Diminished vibratory sense
Impaired vibratory sense
[ more ] |
0002495 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Lethargy | 0001254 | |
Oroticaciduria |
High urine orotic acid levels
|
0003218 |
Poor coordination | 0002370 | |
Progressive cerebellar |
0002073 | |
0002038 | ||
Spastic paraplegia | 0001258 | |
Specific learning disability | 0001328 | |
Speech apraxia | 0011098 | |
Tachypnea |
Increased respiratory rate or depth of breathing
|
0002789 |
5%-29% of people have these symptoms | ||
Abnormality of the coagulation cascade | 0003256 | |
Coma | 0001259 | |
Generalized myoclonic |
0002123 | |
Multifocal cerebral white matter abnormalities | 0007052 | |
Respiratory alkalosis | 0001950 | |
Spastic gait |
Spastic walk
|
0002064 |
1%-4% of people have these symptoms | ||
Chorioretinal atrophy | 0000533 | |
Chorioretinal hypopigmentation | 0040030 | |
Hepatic failure |
Liver failure
|
0001399 |
Percent of people who have these symptoms is not available through HPO | ||
Acute hepatitis |
Acute liver inflammation
|
0200119 |
0000007 | ||
Decreased liver function |
Liver dysfunction
|
0001410 |
Decreased nerve conduction velocity | 0000762 | |
Global |
0001263 | |
Hypopigmentation of the fundus | 0007894 | |
Morphological abnormality of the pyramidal tract | 0002062 | |
Psychomotor retardation | 0025356 | |
Spastic paraparesis | 0002313 |
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
- 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
- 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.
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. - 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.
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 Ornithine translocase deficiency syndrome. This website is maintained by the National Library of Medicine.
In-Depth Information
- 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 Ornithine translocase deficiency syndrome. Click on the link to view a sample search on this topic.