Frequently Asked Questions

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We are building a FAQ corner for patients or parents of patients for questions that they may frequently ask. Below please find some FAQ for what we have gathered so far from talking to different patients and their families. Please submit any questions that you may have on your mind to us. We will try to find a good answer for you through our panel of experts and post it here in FAQ if it is useful for other patients as well.
 

  1. What is the most important aspect of the management of the condition?
    Currently it is diet management. For NICCD patients, lactose free formula with MCT is recommended. For post NICCD patients, they should follow a low carbohydrate, high protein and fat diet with the overall calories contribution ratio of protein/fat/carbohydrate (PFC) at about 20:40:40. MCT is also reported to be helpful to be included in patient’s diet to prevent hypoglycemia during the “silent period”. ​ For CTLN2 patients, they should also follow a low carbohydrate, high protein and fat diet. Some patients would be given sodium pyruvate and arginine to help them cope with the condition better.

  2. How to prevent the onset of CTLN2?
    It is not fully understood yet what causes the onset of CTLN2. This is one of the important areas on which the Foundation is focusing. The Foundation is funding research to further elucidate factors that can lead to the onset of CTLN2.​ From what we have understood so far, the best way to prevent the onset of CTLN2 is through proper diet management. It is recommended that patients follow a low carbohydrate diet with the overall calories contribution ratio of protein:fat:carbohydrate (P:F:C) at about 20:40:40. MCT is also reported to be helpful to be included in patient’s diet to prevent hypoglycemia. It is also very important that patients should avoid alcohol which is reported to possibly cause hyperammonemia. Other substances to avoid include glycerol and fructose infusion; acetaminophen and rabeprozole.

  3. Is it certain that citrin deficiency patients will develop CTLN2 at some point in their lives?
    Not really based on our understanding. One consoling fact: so far, all the reported cases of CTLN2 consist of patients who did not know that they have citrin deficiency since they were young. Since Prof Saheki and Kobayahsi discovered the condition, none of the patients who discovered that they have citrin deficiency since they were young in Japan, where follow-ups and diet management are properly done, have developed CTLN2. In Japan, where there has been rigorous surveillance of CTLN2 patients, the prevalence rate of NICCD is about 1:17000, whereas that of CTLN2 is 1:100,000-1:200,000. ​

  4. CTLN2 is characterized by neuropsychiatric symptoms, does it mean that my child may have cognitive issues?
    First of all, citrin deficiency is an inborn error of metabolism that affects the metabolic pathways. It is not a neurological or psychiatric condition. Patients' cognitive developments and abilities are not affected. Second of all, CTLN2 could mostly be prevented if you follow the right diet management and do periodic check- ups as CTLN2 is normally associated with hyperammonemia which is the result of urea cycle disorder, often triggered by the wrong diet. Most citrin patients do not develop CTLN2 based on our current understanding.

  5. How often should patients go back for check-ups?
    During the NICCD period, it is recommended that your child goes for monthly check-ups which include blood tests and physical examination. Post-NICCD, check- ups can be carried out every 4 to 6 months depending on the patient’s condition. The attending physician will decide how frequent the check-ups need to be based on patient’s condition.

  6. What tests should be done during the check-ups?
    Your attending physician or your child’s attending physician will decide ultimately what tests are suitable for you or your child. Typically, full liver function panel, GGT, ammonia and full amino acid profile will be ordered. AFP will also be ordered in neonates until they passed the NICCD period. Some physicians may also like to check bile acid, serum lipid levels and glucose levels.

  7. What happen during the “silent period” post-NICCD?
    It is not fully understood yet what happens during the “silent period” post-NICCD. What is known now is that many patients seem to be doing quite well during this “silent period”. It is one of the focus of the Foundation to find out what happens during the “silent period”, whether there are compensatory pathways or modifier genes that can help patients during this period and what could possibly trigger CTLN2 in some patients and how to prevent that from happening. ​

  8. My child has strong food preference, should I be worried?
    Most citrin patients would have a food preference to like protein and fat and dislike carbohydrate. Some are also reported to like milk. It is completely normal for your child to have food preference if he or she has citrin deficiency. It is a natural way for them to protect their bodies. It is not advisable to force them to eat things that they dislike. It is advisable that they listen to their bodies. It is recommended that their overall PFC ratio on food intake is roughly within the the recommended guidelines.

  9. Since lactose is removed from the diet of NICCD patients, should lactose be re- introduced after the NICCD period?
    Many NICCD patients have been given lactose again after their liver function has been normalised. Re-introducing lactose does not seem to cause any deterioration in the lab results of liver function tests or plasma amino acid tests for these patients. In fact, some citrin patients have a strong fondness for milk. There are a few hypotheses which explain why lactose is not good for NICCD patients but seems to be fine or even beneficial for post NICCD patients, but none of these hypotheses have been fully established. It is a puzzling question and our Foundation is funding research to try to fully understand this perplexing phenomenon. You or your child's attending physician will ultimately decide whether it is appropriate to re-introduce lactose and if yes, when to do so.

  10. What to do when patients are sick?
    It is recommended that more frequent meals in smaller quantities to be given to patients when they are sick. Also, special attention should be given to them to make sure that they do not have hypoglycemia. It is recommended that more frequent meals in smaller quantities to be given to patients when they are sick. Also, special attention should be given to them to make sure that they do not have hypoglycemia.

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Citrin Foundation, set up in 2016 to tackle citrin deficiency, aims to provide end-to-end support to all citrin deficiency patients, from funding research that drives effective treatments and eventually cure, and provide support to patients and families. We are a patient-driven, not-for profit organization.

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