Frequently asked questions
We have compiled a list of frequently asked questions for your ease of reference.
We have compiled a list of frequently asked questions for your ease of reference.
Please contact us here and we can help!
Please contact us here and we can help!
It can be inherited but not all the time.
We all have a set of 2 genes, one from our mother, and one from our father. As a parent, we pass 1 of the 2 genes to a child. If the child receives 1 gene with a change (variant) from their mother and 1 gene with a change (variant) from their father, the child will have citrin deficiency. If a child receives 0 or 1 gene with a variant from either parent, the child will not have citrin deficiency.
This is because the gene with a variant will be masked in the presence of the gene without a variant. This type of gene is called a recessive gene.
For example, if one of the 2 genes from either parent has a variant, like the drawing below, there is a ¼ chance the child will have citrin deficiency and a 3⁄4 chance that they will not.
As seen here (What is Citrin Deficiency | Symptoms & Incidence), it is definitely not uncommon to be a carrier and the carrier rate will keep updating as new variants are found.
PFC ratio is a ratio of energy from Protein, Fat, and Carbohydrates, which makes up the whole energy source.
Protein, fat, and carbohydrates are the only sources of energy.
It is not a ratio of weight.
To calculate the PFC ratio, the weight (gram) shown on the nutrition facts table needs to be converted to energy (kcal).
Protein 1g = 4kcal, fat 1g = 9kcal, carbohydrate 1g = 4kcal
Carbohydrate 1g can range approximately between 3.85～4.2kcal depending on the food.
| Nutrition Facts Table (g) | Converted to energy (kcal) | P:F:C | |
|---|---|---|---|
| Energy | 132 kcal | (Total approx. 132 kcal) | (Total 100) |
| Protein | 6.6g | 26.4 kcal | 20 |
| Fat | 7.4g | 66.6 kcal | 50 |
| Carbohydrates | 9.7g | 38.8 kcal | 30 |
As seen in the table above, the PFC ratio of this whole milk is 20:50:30, which is the approximate average P:F:C balance of Japanese patients’ diet. This ratio is also regarded as a good nutritional balance for citrin deficiency patients in Japan. Please consult your doctor for the appropriate PFC balance.
| Nutrition Facts Table (g) | Converted to energy (kcal) | P:F:C | |
|---|---|---|---|
| Energy | 168 kcal | (Total approx. 168 kcal) | (Total 100) |
| Protein | 2.5g | 10.0 kcal | 6 |
| Fat | 0.3g | 2.7 kcal | 2 |
| Carbohydrates | 37.1g | 155.3 kcal | 92 |
As seen in the table above, the PFC ratio of this bowl of rice is 6:2:92. Patients are advised to combine other dishes that are high in protein and fat to balance the nutrient intake of the whole meal so that it is closer to a high protein, high fat and low carbohydrate diet.
To find out more about the nutritional data of different foods, please visit USDA’s FoodData Central here: https://fdc.nal.usda.gov/
The ideal PFC ratio depends on the condition of the patient. It is ok not to calculate it every time.
On normal days, if the patient is healthy as usual, the nutritional intake will naturally be well-balanced, if the patient consumes food they prefer in the amount they prefer.
A survey report conducted in Japan shows the average PFC ratio for citrin deficiency patients was 20:50:30 (Japan is known to consume a higher portion of carbohydrates compared to western countries). This ratio is derived from a study conducted by Dr. Yoshiyuki Okano which you can read more about here.
It will be ideal if one meal has a combination of dishes with a variety of ingredients that meets the balanced PFC. Changing the method of cooking (grill↔deep fry), the amount cooked, and ingredients used can help to adjust the nutritional balance. Adding MCT is another way to adjust the balance.
If for some reason, the PFC ratio of one meal is imbalanced (for example the patient took a lot of carbohydrates at lunch), the patient is likely to adjust the nutritional balance at dinner naturally by reducing the amount of carbohydrates and vice versa. Please leave it up to the patient but maintain careful monitoring.
* There have been reported cases of AACD* onset following a load of carbohydrate intake (ex. a bag of candy) at once, or long-term excessive carbohydrate consumption (ex. lifestyle change such as marriage), probably because the self-protection function in the patient was somehow impaired. Please be careful with consuming too much carbohydrate.
Please consult your dietitian periodically to review your diet.
*Adolescent and adult-onset citrin deficiency (AACD) – formerly known as CTLN2
Why do citrin deficiency patients need to take MCT?
Citrin deficiency patients cannot tolerate much carbohydrates which is why they develop a natural food aversion against foods that are high in carbohydrates. They instead take a lot of food that are high in fat and protein to gain energy, but the usual fat (long-chain fat) may increase health issues later on. Protein is not very efficient in generating energy.
MCT (medium-chain fat) is different from the usual fat in a way it directly provides energy to the liver. This will be important for citrin deficiency patients as they have energy deficiency in the liver. As MCT is not commonly found in foods, citrin deficiency patients are recommended to take MCT oil as supplements.
*Adolescent and adult-onset citrin deficiency (AACD) – formerly known as CTLN2
- 1g/kg – According to Professor Kimitoshi Nakamura, Professor and Chairman of the Department of Pediatrics at the Graduate School of Medical Sciences at Kumamoto University
- If patients are not able to tolerate this dosage due to stomach upset, please adjust the dosage accordingly.
- Please consult your doctor for the usage
- 1g/kg – According to Professor Kimitoshi Nakamura, Professor and Chairman of the Department of Pediatrics at the Graduate School of Medical Sciences at Kumamoto University
- If patients are not able to tolerate this dosage due to stomach upset, please adjust the dosage accordingly.
- Please consult your doctor for the usage.
Useful tips on how to take MCT
- MCT enriched formula / MCT supplemented breast milk (please consult your doctor for dosage) is recommended for NICCD patients
- MCT oil cannot be heated for cooking but MCT powder is available for cooking.
- Post NICCD:
- It is best to take MCT oil with your meals, in divided portions throughout the day
- Some suggested methods of consuming MCT oil are as follows:
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-
- Blend it in your smoothie or drink with a blender
- Mix it in your salad or add it to boiled vegetables
- Add it to your soup and stir it well
- Dip it with bread
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A meal with meat/fish + eggs, dairy products, beans, and vegetables, in addition to rice/bread/pasta of the amount the patient can take. Patients generally like something simple like salt & pepper.
“Double the amount of the main dish, half the amount of carbohydrates” is a guideline for patients but please let the patients eat what they prefer in the amount they prefer. Below is the approximate amount per dish compared to the general amount of the meal. Please adjust according to age, sex, activity level, physical condition, and preference.
- Rice/bread/noodle: 1/3-1/2
- Meat/fish/egg/soy products: x2-3
- Milk/dairy products: x2-3
- Vegetables/mushrooms/seaweed: same amount
- Potatoes, fruits: 1/3-1/2
- Oil, nuts: x2-3
- Sugar: little-none
- Snacks: 1/3-0
Snacks, milk, yogurt, boiled egg, sausage, dried fish, cheese, or nuts tend to be preferred. Patients usually do not like cookies, candies, cakes, or red soybean paste. Patients are sensitive to the sweet taste, and they tend to avoid any seasonings that taste ‘sweet’ to them, such as soybean paste, or sauces with sugar content. Cooking wine (with the alcohol completely evaporated) seems fine for some patients while others may still avoid it.
We will soon share recipes for you to try out, please stay tuned!
Even a little bit of drinking can cause serious damage.
There are many AACD* patients who had an onset following the consumption of alcoholic beverages. The hard limit can depend on the person on a particular day but in citrin deficiency, even a small amount can cause devastating damage to a patient, including abnormal behaviors and encephalopathy, which can be life-threatening.
It is too risky to test your limits.
*Adolescent and adult-onset citrin deficiency (AACD) – formerly known as CTLN2
It is usually not necessary nor recommended unless advised by a physician.
There are many kinds of supplements available, but you may want to be careful especially when consuming amino acid supplements such as ornithine as they inter-convert in the body. For example, ornithine is made from citrulline, and arginine becomes ornithine in the body. It is not recommended to take supplements especially amino-acid-based ones to avoid complications.
Iron is also something that does not need to be additionally supplemented unless advised by a physician, as it could cause a hepatic disturbance.
Yes! Just follow the tips, be mindful about your diet, speak to your doctors and dietitians periodically, and keep your eyes open for new developments in our research!
Patients are advised to eat the food they desire when he/she does not have an appetite. Seek treatment if the condition persists or if they feel too sick to eat or drink, as their condition is likely to develop into hypoglycemia.
If you are worried about hypoglycemia, you can discuss with your doctor on using glucose meters that you can use at home.
In case of treating pain or fever at home, please remember that significant excess of the prescribed amount/period of acetaminophen intake is said to damage liver of citrin deficiency patients.
Some medicine may be too sweet for the patients. Parents could use a compounding pharmacy to make non-sweet liquids, ask for suppositories or tablets and crush the tablets, or add water to dilute the medicine to help patients take medication.
If a patient sees a doctor other than the attending doctor, please tell him/her that the patient has citrin deficiency. There is no problem with temporary general glucose infusion for the treatment of hypoglycemia and general infusion for the treatment of diarrhea or vomiting. It is advisable to let patients eat/drink what they wish regardless of the general medical protocol for a quicker recovery after their appetite returns.
If you are losing weight and/or experiencing somnolence, please consult your doctor.
There has been no reported case of such complications related to citrin deficiency as of now.
It could possibly be due to citrin deficiency.
It is possible that you are not eating enough food, or that you are using more energy due to changes in your lifestyle. These could also be symptoms of hypoglycemia. Regardless, you need to eat now to supply energy to your body. When you feel like you want to snack on something with higher carbohydrate content, start with a smaller portion, and consume it alongside other food/beverages such as milk, cheese, yogurt, or meat/fish. MCT can also be a good supplement for your energy need.
You may want to revisit your recent diet and make sure that you take enough nutrients and energy with your three meals and snacks and take note to eat more food when your activity level is higher. Rest more when you feel tired.
If you continue to feel unwell or if your appetite does not return, please consult a doctor as it could be something other than citrin deficiency that is causing these issues.
Yes! Please inform your attending doctor for citrin deficiency about this soon or make an appointment and tell the doctor about your condition.
Please consult your pediatric attending physician if you have been visiting the pediatric department since childhood.
If you are an adult patient and have not seen a pediatrician, the relevant divisions and departments would be in metabolic diseases, gastroenterology, neurology, etc., but it may be possible that doctors are not familiar with citrin deficiency. Please write to info@citrinfoundation.org if you need any assistance.
Please consult your attending doctor if you are moving and need to find a doctor at the new location.
Symptoms such as delirium, disorientation, convulsions, and drowsiness may appear. In some cases, these symptoms could be wrongly diagnosed as epilepsy or schizophrenia at firstt.
*Adolescent and adult-onset citrin deficiency (AACD) – formerly known as CTLN2
There are treatments available through medications for some conditions, but in some other cases, liver transplantation may be required. Daily medication will be necessary to control the levels of ammonia in the blood.
*Adolescent and adult-onset citrin deficiency (AACD) – formerly known as CTLN2
There are many cases where CTLN2 was triggered by the consumption of alcohol. Although the alcohol threshold may differ from person to person, it is also dependent on the body condition of the person on that particular day. This means a tiny amount of alcohol can drastically cause the patient’s condition to deteriorate. As your alcoholic threshold changes depending on your physical condition, it is too risky to try and challenge it especially in a social setting where it may be hard to refuse alcohol. It is best to inform people around you of your condition beforehand.
With daily maintenance of your diet and regular medical checkups, the condition of citrin deficiency can be improved and remain stable. Please continue your medication if you are prescribed with any. If you have been feeling unwell for a while, it is advisable to review your diet and consult a doctor and a dietitian. Currently, there is research ongoing that is looking into possible treatments and will hopefully lead to an eventual cure for citrin deficiency.
If you have any other questions...
If you have any other questions that have not been addressed above, please feel free to reach us through the contact us page and we will revert to you as soon as possible.