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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
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
How can citrin deficiency patients benefit from MCT supplementation?
Patients with citrin deficiency struggle to efficiently obtain energy from carbohydrates which are a major source of calories in typical diets and widely present in foods. This impairment can lead to a chronic energy deficit, particularly in the liver. Over time, inadequate energy supply in the liver can contribute to serious health complications.
Medium-chain triglycerides (MCT) offer a valuable alternative energy source. Unlike long-chain fats, MCT is quickly absorbed and provides energy directly to the liver. Because the liver has high energy demands, MCT can help compensate for the metabolic challenges associated with citrin deficiency.
Since MCT is not commonly found in foods, patients with citrin deficiency are advised to take MCT as a supplement. Regular MCT supplementation can support energy levels, reduce the risk of liver-related complications, and improve overall metabolic stability.
MCT has been used as a treatment for NICCD and AACD* and MCT oil has also been reported to be effective for citrin deficiency patients during the compensatory phase.
*Adolescent and adult citrin deficiency (AACD) – formerly known as citrullinemia type 2 (CTLN2)
1. 1ml/kg/day – According to Professor Kimitoshi Nakamura, Professor and Chairman of the Department of Paediatrics at the Graduate School of Medical Sciences at Kumamoto University.
2. If patients experience stomach discomfort, please adjust the dosage accordingly. You may want to start with a small dosage and work up to the full dose.
3. Recommended maximum dosage is 45ml/day for male and 30ml/day for female (Hayasaka 2023, Internal Medicine)
Please consult your doctor before introducing MCT to your diet*
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.
- Do not use MCT oil for cooking, as it will lose its nutritional value when exposed to high heat. However, MCT powder is available and is suitable for cooking.
Post NICCD:
- It is recommended to take MCT oil with your meals, in divided into smaller portions throughout the day.
- Some suggested methods for consuming MCT oil are as follows:
- Blend it in a smoothie or drink
- Mix it in a salad or add it to boiled vegetables
- Add it to your soup and stir it well
- Use it as a dip for bread
Medication
Medication
*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
Stay Up-To-Date
Stay Up-To-Date
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