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Diet Management | MCT | Medication | Tips to follow for citrin deficiency patients  | Stay Up-To-Date

 Below are the general treatment options for patients with citrin deficiency. Please always consult your attending doctor in regard to treatment as the condition and the severity is very different for each patient.

Diet Management

Diet Management

Maintain a low carbohydrate, high protein, high fat diet

It is important to keep a low carbohydrate, high protein and high fat diet. This tendency will become obvious when infants begin eating more solid food and gain more of their energy from food rather than milk. This serves as a very important function to compensate for the metabolic issues of citrin deficiency in the form of a ‘food preference’. Patients tend to naturally keep to a PFC ratio that is comfortable for them with the food that they prefer to eat. In other words, patients may stay healthy by following their own choice of food.

Please pay careful attention to consuming too much carbohydrates. Consuming a significant amount of carbohydrates (sugar) all at once and over-consumption of carbohydrates (sugar) over a long period of time can lead to the onset of AACD*.

For your reference, based on the 2019 Citrin Deficiency Guidelines published by the Japan Society of Inherited Metabolic Disorders, the recommended PFC ratio for citrin deficiency patients is Protein: 15% – 25%, Fat: 40% – 50%, Carbohydrate: 30% – 40%. Try to take a variety of sources of fat and avoid relying on animal fat by actively using more healthy fat such as vegetable-oriented fat like olive oil.

If a fixed meal is provided, such as during school lunch, some arrangements may be necessary. Please learn more here.

Parents are strongly advised to monitor and teach their children from early childhood, by allowing them to be aware of their condition and letting them manage their diet by themselves to help them prepare for future independence. Patients are advised to independently manage their diets through preparing their own food or finding means to have their food ready by adolescence.

Take 3 main meals and snacks in between

The energy tends to become insufficient for patients with citrin deficiency as they have metabolism issues. It is very important to load energy frequently by eating breakfast, lunch, dinner, and having snacks in between for patients at any age.

*Adolescent and adult-onset citrin deficiency (AACD) – formerly known as CTLN2

MCT

MCT

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. 

MCT has been used as treatment for NICCD and AACD*. Additionally, MCT oil has also been reported to be effective for citrin deficiency patients during the compensatory phase.

To learn more about MCT, please visit What is MCT? for more information.

*Adolescent and adult-onset citrin deficiency (AACD) – formerly known as CTLN2

Recommended Dosage of MCT
  1. 1g/kg/day – According to Professor Kimitoshi Nakamura, Professor and Chairman of the Department of Pediatrics at the Graduate School of Medical Sciences at Kumamoto University
  2. If patients are not able to tolerate this dosage due to stomach upset, please adjust the dosage accordingly. 
  3. Please consult your doctor for the usage. 
Recommended Dosage of MCT
  1. 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
  2. If patients are not able to tolerate this dosage due to stomach upset, please adjust the dosage accordingly. 

Useful tips on how to take MCT

  1. MCT enriched formula / MCT supplemented breast milk (please consult your doctor for dosage) is recommended for NICCD patients
  2. 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:
      • 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
    •  

Medication

Medication

Medications for NICCD patients

NICCD patients receive prescriptions that fits the condition of each patient. Please consult with your attending doctor. 

Medications for AACD* patients

AACD* patients receive a different set of medications to control their ammonia levels.

Sodium Pyruvate

Some patients may be prescribed sodium pyruvate depending on their condition

*Adolescent and adult-onset citrin deficiency (AACD) – formerly known as CTLN2

Tips to follow for citrin deficiency patients

Tips to follow for citrin deficiency patients

No alcohol

Even a little bit of alcohol can cause detrimental harm to patients with citrin deficiency, and sometimes it may even be life-threatening.

No drinking.

Please learn more here.

Periodical check-up

Infant patients are advised to see a doctor and seek dietary consultation every few months and patients in the adaptation/compensation period should see a doctor and seek dietary consultation every 6-12 months. Citrin deficiency mainly affects the health of the liver, which can get worse silently without any symptoms. Periodical outpatient visits are very important to keep things on track.

No infusion of high concentrated glucose and GLYCEOL®

Infusion of high concentrated glucose or administration of GLYCEOL® for brain edema in the case of an emergency may aggravate the condition of patients with citrin deficiency. Please inform the medics that the patient has citrin deficiency.

There is no problem with general temporary glucose infusion for the treatment of hypoglycemia and general infusion for the treatment of diarrhea or vomiting. After the appetite returns, letting the patients eat high protein and high-fat food leads to a quicker recovery.

No alcohol

Even a little bit of alcohol can cause detrimental harm to patients with citrin deficiency, and sometimes it may even be life-threatening.

No drinking.

Please learn more here.

Periodical check-up

Infant patients are advised to see a doctor and seek dietary consultation every few months and patients in the adaptation/compensation period should see a doctor and seek dietary consultation every 6-12 months. Citrin deficiency mainly affects the health of the liver, which can get worse silently without any symptoms. Periodical outpatient visits are very important to keep things on track.

No infusion of high concentrated glucose and GLYCEOL®

Infusion of high concentrated glucose or administration of GLYCEOL® for brain edema in the case of an emergency may aggravate the condition of patients with citrin deficiency. Please inform the medics that the patient has citrin deficiency.

There is no problem with general temporary glucose infusion for the treatment of hypoglycemia and general infusion for the treatment of diarrhea or vomiting. After the appetite returns, letting the patients eat high protein and high-fat food leads to a quicker recovery.

Stay Up-To-Date

Stay Up-To-Date

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