adult-onset citrin deficiency; adult-onset type 2 citrullinemia; adult-onset type II citrullinemia; citrullinemia type 2; CTLN2adult-onset citrin deficiency; adult-onset type 2 citrullinemia; adult-onset type II citrullinemia; citrullinemia type 2; CTLN2
Citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake. The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia. Adult-onset Citrullinemia type II is caused by genetic changes in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.
Summary
Citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake. The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia. Adult-onset Citrullinemia type II is caused by genetic changes in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.Citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake. The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia. Adult-onset Citrullinemia type II is caused by genetic changes in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.
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Resource(s) for Medical Professionals and Scientists on This Disease:
RARe-SOURCE™offers rare disease gene variant annotations and links to rare disease gene literature.
GeneReviewsprovides clinical information on genetic diseases, including diagnosis, treatment, and genetic counseling.
About Citrullinemia type ii
Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:
Population Estimate:This section is currently indevelopment.
Symptoms:May start to appear as an Adult.
Cause:This disease has more than one possible cause.
Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
Newborn Screening:This disease may be detected through newborn screening tests performed soon afterbirth.
Citrullinemia type ii is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these. 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 genetic mutations 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 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 mutated gene, one from each biological parent, to be affected by the disease. A carrier is a person who only has one copy of the genetic mutation. 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 mutated gene and is affected by the disease. Additionally, there is a 50% chance their child inherits only one copy of the mutated gene and is a carrier.
Symptoms of this disease may start to appear as an Adult.
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 of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.
Prenatal
Before Birth
Newborn
Birth-4 weeks
Infant
1-23 months
Child
2-11 years
Adolescent
12-18 years
Adult Selected
19-65 years
Older Adult
65+ years
Symptoms may start to appear as an Adult.
Symptoms
The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others. Consult your health care team for more information.
The following describes the symptom(s) associated with this disease along with the corresponding body system(s), description, synonyms, and frequency (Note: Not all possible symptoms may be listed):
36 Symptoms
36 Symptoms
36 Symptoms
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
Description and Synonyms
Frequency
Abnormal eating behavior
Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption.
Synonyms:Abnormal eating behavior
Frequency
Uncommon
Frequent
Frequent
Always
Aggressive behavior
Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints.
Frequency
Uncommon
Frequent
Frequent
Always
Coma
Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.
Synonyms:Coma
Frequency
Uncommon
Occasional
Occasional
Always
Confusion
Lack of clarity and coherence of thought, perception, understanding, or action.
Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages.
Synonyms:Decreased BMI
Frequency
Uncommon
Very frequent
Very frequent
Always
Delayed menarche
First period after the age of 15 years.
Synonyms:Delayed start of first period
Frequency
Uncommon
Occasional
Occasional
Always
Delirium
A state of sudden and severe confusion.
Frequency
Uncommon
Frequent
Frequent
Always
Delusions
A false belief that is held despite evidence to the contrary.
Synonyms:Delusions
Frequency
Uncommon
Frequent
Frequent
Always
Diarrhea
Abnormally increased frequency of loose or watery bowel movements.
Synonyms:Diarrhea; Watery stool
Frequency
Uncommon
Occasional
Occasional
Always
Drowsiness
Excessive daytime sleepiness.
Synonyms:Drowsiness; Sleepy
Frequency
Uncommon
Frequent
Frequent
Always
Echolalia
The tendency to repeat vocalizations made by another person.
Synonyms:Echoing another person's speech; Echologia; Echophrasia
Frequency
Uncommon
Occasional
Occasional
Always
Enuresis
Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.
Frequency
Uncommon
Occasional
Occasional
Always
Fluctuations in consciousness
This section is currently in development.
Frequency
Uncommon
Frequent
Frequent
Always
Global developmental delay
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Synonyms:Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; Lack of psychomotor development; Motor and developmental delay; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development
Frequency
Uncommon
Occasional
Occasional
Always
Hallucinations
Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space.
Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.
Frequency
Uncommon
Occasional
Occasional
Always
Hepatic fibrosis
The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
Synonyms:Liver fibrosis
Frequency
Uncommon
Occasional
Occasional
Always
Hepatic steatosis
Steatosis is a term used to denote lipid accumulation within hepatocytes.
Synonyms:Fatty infiltration of liver; Fatty liver; Liver steatosis; Steatosis
Frequency
Uncommon
Very frequent
Very frequent
Always
Hepatocellular carcinoma
A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.
Frequency
Uncommon
Occasional
Occasional
Always
Hepatomegaly
Abnormally increased size of the liver.
Synonyms:Enlarged liver
Frequency
Uncommon
Frequent
Frequent
Always
Hyperactivity
Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate.
Synonyms:Hyperactive behavior; More active than typical
Frequency
Uncommon
Occasional
Occasional
Always
Insomnia
Persistent difficulty initiating or maintaining sleep.
Synonyms:Difficulty staying or falling asleep
Frequency
Uncommon
Occasional
Occasional
Always
Irritability
A proneness to anger, i.e., a condition of being easily bothered or annoyed.
Synonyms:Irritability; Irritable
Frequency
Uncommon
Frequent
Frequent
Always
Lethargy
A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.
Synonyms:Lethargy
Frequency
Uncommon
Frequent
Frequent
Always
Mania
A state of abnormally elevated or irritable mood, arousal, and or energy levels.
Synonyms:Manic
Frequency
Uncommon
Occasional
Occasional
Always
Memory impairment
An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.
A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.
Synonyms:Psychosis
Frequency
Uncommon
Occasional
Occasional
Always
Restlessness
A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress.
Synonyms:Restlessness
Frequency
Uncommon
Frequent
Frequent
Always
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Synonyms:Epileptic seizure; Seizures
Frequency
Uncommon
Frequent
Frequent
Always
Sleep disturbance
An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Synonyms:Tremor; Tremors
Frequency
Uncommon
Frequent
Frequent
Always
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Synonyms:Emesis; Throwing up; Vomiting
Frequency
Uncommon
Occasional
Occasional
Always
Diagnostic Journey
On average, it takes more than six years to receive an accurate rare disease diagnosis. Many primary care providers (PCPs) may not be familiar with rare diseases, and you may need to see multiple specialists to reach the correct diagnosis. However, advocating for yourself with your healthcare team may help speed your time to diagnosis. To combat common challenges, be prepared:
Find disease-specific information to discuss with your healthcare providers.
Ask for diagnostic tests.
Request referrals to specialists.
Knowing where to start your diagnostic journey and how to navigate the next steps are critical to speeding your time to diagnosis
Your Diagnostic Team
How can a diagnostic team help?
Establishing care with a dedicated primary care provider (PCP) is an important early step in your rare disease journey. A PCP can help improve care and shorten the time to diagnosis by providing referrals to the appropriate specialists. These specialists, with advanced training in different body systems or types of diseases, can offer the specialized diagnostic procedures you need.
Diagnostic teams for Citrullinemia type ii may include:
Multidisciplinary Care Centers
Is it time to find a multidisciplinary care center?
If you've visited your PCP, met with specialists, and undergone the recommended tests, but still do not have a confirmed diagnosis, it may be time to visit a multidisciplinary care center. Multidisciplinary care centers are usually teaching, university, or research hospitals that have teams of medical experts and specialists working together in the same location. This means a wide range of diagnostic tests and clinical knowledge are available at one facility, which can help increase communication and collaboration among your care team. The additional resources often available at multidisciplinary centers may help speed the time to diagnosis for rare diseases.
Is it time to find a multidisciplinary care center?
If you've visited your PCP, met with specialists, and undergone the recommended tests, but still do not have a confirmed diagnosis, it may be time to visit a multidisciplinary care center. Multidisciplinary care centers are usually teaching, university, or research hospitals that have teams of medical experts and specialists working together in the same location. This means a wide range of diagnostic tests and clinical knowledge are available at one facility, which can help increase communication and collaboration among your care team. The additional resources often available at multidisciplinary centers may help speed the time to diagnosis for rare diseases.
If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may need or where to find one. A rare disease expert is a care provider that has knowledge or training on specific disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis. Contact a GARD Information Specialist for help finding an expert.
You can ask your care providers for help finding an expert or use directory tools to search for experts near you. The National Organization for Rare Disorders (NORD) maintains a list of rare disease centers with experts that work together to find treatments and cures for a broad range of rare diseases. Search NORD's Center Directory to find experts near you.
Rare Disease Experts
How can you find a rare disease expert?
If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may need or where to find one. A rare disease expert is a care provider that has knowledge or training on specific disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis. Contact a GARD Information Specialist for help finding an expert.
You can ask your care providers for help finding an expert or use directory tools to search for experts near you. The National Organization for Rare Disorders (NORD) maintains a list of rare disease centers with experts that work together to find treatments and cures for a broad range of rare diseases. Search NORD's Center Directory to find experts near you.
Find Your Community
How Can Patient Organizations Help?
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 play an important role in medical advances, including for rare diseases. Through clinical studies, researchers may 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.
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.
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 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.
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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.
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.
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.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that 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.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that 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.
GARD collects data from a variety of sources to populate its website and provide accurate and reliable information on rare diseases.
GARD uses data collected from Orphanet and Online Mendelian Inheritance in Man (OMIM) to interpret and provide information on rare diseases. This includes names, synonyms, genes, symptom frequency, population estimates and more.
Orphanet is an online database of rare diseases and orphan drugs that provides aggregated data coordinated by INSERM-US14 in Paris.