What is citrin deficiency?
What is citrin deficiency?
Citrin Deficiency is an inherited metabolic genetic condition that is also a secondary urea cycle disorder. Patients typically do not like food containing a lot of carbohydrates such as rice, bread, or pasta. Instead, they like food containing fat and protein such as meat, milk, dairy products, deep-fried food, and nuts. Patients can generally lead a normal life with proper diet management and monitoring by a doctor who knows how to handle the condition.
The following video shows some symptoms commonly faced by citrin deficiency patients. If you are having any of these symptoms or suspect that you may have citrin deficiency, please consult your doctor or reach out to the Foundation:
What is the cause?
What is the cause?
There are about 30,000 genes in our body. Each gene creates various proteins, and the proteins construct our body’s blueprint.
One of the genes is named SLC25A13. This gene creates a protein called ‘citrin’. The ‘citrin’ protein’s job is to help in breaking down food to produce energy for cells and hence our body. Citrin works in cells. Inside a cell, citrin carries an amino acid called glutamine from one place (cytosol) into another (mitochondria), and on the way back it grabs a different amino acid called aspartate from mitochondria and brings it to cytosol.
In citrin deficiency, there are some changes/variants in the SLC25A13 gene. The SLC25A13 gene with variants either produces no citrin protein, or incomplete/dysfunctional citrin proteins. Therefore, the function that is supposed to be carried out by the citrin protein could not be performed, leading to the malfunction of metabolism in some parts of the body, and induces some symptoms.
In the following video, our Director of Scientific and Medical Development, Li Eon Kuek, provides a simplified explanation of the mechanisms, scientific understanding and dietary implications of citrin deficiency.
It is said that around 1 out of 40 persons in some parts of Asia carries one such variant in the SLC25A13 gene. It takes 2 variants to be a patient, therefore the frequency of occurrence of citrin deficiency is assumed 1/40 x 1/40 x 1/4=1/6,400 in some parts of Asia. Read more here.
Symptoms of Citrin Deficiency
Symptoms of Citrin Deficiency
Citrin deficiency patients may experience certain symptoms in different stages of their lives.
★ Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD)
Period: From birth to 1 year old
Common Symptoms: Prolonged jaundice, intrahepatic cholestasis, whitish stool, weight stagnation, galactosemia, citrullinemia, hypoglycemia
There are patients who do not experience the NICCD stage. Many NICCD cases resolve naturally by the age of 1, but some severe cases may require treatment including liver transplantation.
★ Adaptation/compensation period
Period: Post 1 year old or after NICCD recovery
Common Symptoms: Failure to thrive, hypoglycemia, fatigue, abdominal pain, fatty liver.
Please note that each patient may experience different symptoms, and some do not experience any symptoms.
Symptoms are often alleviated with the nutritional balance mentioned below and other physical maintenance in daily life.
Food Preferences: From 1 year old onwards, the patients’ food preference becomes skewed towards a high protein, high fat, and low carbohydrate diet, and this food preference has been seen in the majority of patients with citrin deficiency. This particular nutritional balance plays a very important role in inhibiting symptoms and is key to a healthy life.
It is important to have accurate knowledge and practice accordingly to avoid the onset of AACD*.
★ Adolescent and adult-onset citrin deficiency (AACD)*
Period: Mostly in adulthood, but it can also be seen in teens
Common Symptoms:
- Recurrent Hyperammonemia (raised ammonia level)
- Neuropsychiatric symptoms: delirium, aggressiveness, irritability, hyperactivity, disorientation, agitation, drowsiness, memory loss, tremors, convulsions and coma
-
In some cases with no enforcement of treatment appropriate to the condition, patient may develop cerebral edema which can lead to death
Most patients are able to avoid the onset of AACD* by maintaining an appropriate diet for citrin deficiency and accurate knowledge.
*AACD – formerly known as CTLN2
| Indicators | Description |
|---|---|
| Period | From birth to 1 year old |
| Common Symptoms | Prolonged jaundice, intrahepatic cholestasis, whitish stool, weight stagnation, galactosemia, citrullinemia, hypoglycemia |
There are patients who do not experience the NICCD stage.
Many NICCD cases resolve naturally by the age of 1, but some severe cases may require treatment including liver transplantation.
| Indicators | Description |
|---|---|
| Period | Post 1 year old or after NICCD recovery |
| Common Symptoms, if any | Failure to thrive, hypoglycemia, fatigue, abdominal pain, fatty liver.
Please note that each patient may experience different symptoms, and some do not experience any symptoms. Symptoms are often alleviated with the nutritional balance mentioned below and other physical maintenance in daily life. |
| Food preference | From 1 year old onwards, the patients’ food preference becomes skewed towards a high protein, high fat, and low carbohydrate diet, and this food preference has been seen in the majority of patients with citrin deficiency. This particular nutritional balance plays a very important role in inhibiting symptoms and is key to a healthy life.
It is important to have accurate knowledge and practice accordingly to avoid the onset of AACD*. |
| Indicators | Description |
|---|---|
| Period | Mostly in adulthood, but it can also be seen in teens |
| Common Symptoms |
|
Most patients are able to avoid the onset of AACD* by maintaining an appropriate diet for citrin deficiency and accurate knowledge.
*AACD – formerly known as CTLN2
Please note that not all patients experience all these symptoms. There are patients who do not present any symptoms of NICCD or any symptoms during the adaptation period. It is also said that AACD can be avoided with the proper diet, appropriate measurement, and periodical checkup and doctor consultation. The symptoms and severity of citrin deficiency depend on the biological structure, age, and nutritional status of the person at the time.
Current Treatments
Current Treatments
Currently, the main treatment method for citrin deficient patients is diet management and the intake of MCT. For more information on treatment please visit our treatment page here.
🏴 You can find more details here: What is citrin deficiency?
Frequently Asked Questions
Frequently Asked Questions
Please visit our Frequently Asked Questions page for more information. If you have any questions regarding citrin deficiency, please do not hesitate to contact us at patients@citrinfoundation.org.
Keep yourself up to date
Keep yourself up to date
Research in science and medicine will consistently yield new findings and developments. It is important that you keep yourself up-to-date on the latest findings and information to enhance your or your child’s health.
Citrin Foundation aims to support patients by funding research in citrin deficiency directly and being on top of the latest developments in scientific and treatment development regarding citrin deficiency with our network of scientists and doctors around the world.
Please join our patient community here, and we will send you the latest updates on developments and treatments when they are available, as well as invitations for events we host and tips to enhance the quality of patients’ life.
Your registration will also help doctors and scientists to further understand the condition and will be helpful for our efforts in developing treatments.
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