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Disease Information

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.
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.
Resource(s) for Medical Professionals and Scientists on This Disease:

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.
  • Categories:Inherited MetabolicdiseasesGeneticdiseasesGastrointestinaldiseases

Causes

What Causes This Disease?

Genetic Mutations

Can This Disease Be Passed Down From Parent to Child?

Autosomal Recessive

When Do Symptoms of Citrullinemia type ii Begin?

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.

Synonyms:Aggression; Aggressive behavior; Aggressive behaviour; Aggressiveness

Frequency
Uncommon
Frequent
Frequent
Always
Asterixis

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.

Synonyms:Confusion; Disorientation; Easily confused; Mental disorientation

Frequency
Uncommon
Frequent
Frequent
Always
Decreased body mass index

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.

Synonyms:Hallucination; Hallucinations; Sensory hallucination

Frequency
Uncommon
Frequent
Frequent
Always
Hepatic encephalopathy

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.

Synonyms:Forgetfulness; Memory impairment; Memory loss; Memory problems; Poor memory

Frequency
Uncommon
Frequent
Frequent
Always
Night sweats

Occurrence of excessive sweating during sleep.

Synonyms:Night sweats; Nocturnal hyperhidrosis

Frequency
Uncommon
Frequent
Frequent
Always
Pancreatitis

The presence of inflammation in the pancreas.

Synonyms:Pancreatic inflammation

Frequency
Uncommon
Occasional
Occasional
Always
Psychosis

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.

Synonyms:Difficulty sleeping; Sleep disturbances; Sleep dysfunction; Trouble sleeping

Frequency
Uncommon
Frequent
Frequent
Always
Sleep terror

Episodes of intense fear, screaming and flailing although affected individuals are still asleep.

Synonyms:Night terror; Pavor nocturnus; Sleep terrors

Frequency
Uncommon
Frequent
Frequent
Always
Tremor

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.

Use this tool by Medicare to find a PCP in your area by inputting your location and keyword "Primary Care Provider."

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.



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.




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.

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.

 

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.

View GARD's criteria for including patient organizations, which can be found under the FAQs on our About page. Request an update or to have your organization added to GARD.

Patient Organizations

7 Organizations

Organization Name

Who They Serve

Helpful Links

Country

People With

Citrullinemia type ii

Helpful Links
Country

Singapore

People With

Citrullinemia type ii

Helpful Links
Country

United Kingdom

People With

Citrullinemia type ii

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

Participate in Research

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?

  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.

Why Participate in Clinical Studies?

What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.

Why Participate in Clinical Studies?

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

What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

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.
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
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.
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.

Last Updated: December 2024