We notice that most citrin deficiency patients have a strong food preference and generally dislike/avoid carbohydrates. Feedback from patients in our Foundation registry shows that overconsumption of carbohydrates tends to cause discomfort for patients. Studies suggest that the strong food preferences seen in patients is [...]
It is recommended that more frequent meals in smaller portions are to be given to patients when they are sick. Special attention should also be given to them to ensure that they do not experience hypoglycemia.
Many NICCD patients have been given lactose again after their liver functions have normalized. Re-introducing lactose does not seem to cause any deterioration in the lab results for liver function tests or plasma amino acid tests in these patients. This is a puzzling question, and [...]
Most citrin deficiency patients have a strong preference towards foods that are high in protein and fat while disliking carbohydrates and sugary foods. Some patients have also been reported to favor milk. It is completely normal for your child to exhibit these dietary tendencies if [...]
The biochemical changes that occur during the “silent period” and their physiological consequences are still being established. While some patients may appear mostly healthy, others may experience hypoglycemia, fatigue, abdominal pain, or growth impediments. A focus of the Foundation is to study what happens in [...]
You, or your child’s attending physician will decide ultimately what tests are suitable. Typically, a full liver function panel, gamma-glutamyl transferase (GGT or GPT) test, blood ammonia levels, and a full amino acid profile will be ordered. An alpha-fetoprotein (AFP) test will also be requested [...]
During the NICCD period, it is recommended for your child to go for monthly checkups that include blood tests and physical examinations. Post-NICCD checkups should be carried out every 4 to 6 months. The attending physician will advise on the frequency of checkups based on the [...]
It is important to stress that citrin deficiency is an inborn error of metabolism that primarily affects the liver and its associated metabolic pathways. As long as there is no recurrent hyperammonemia, patients should not experience neurological or psychiatric symptoms, or cognitive impairments. Therefore, the [...]
Based on the literature and personal communications, not all patients with citrin deficiency will develop Adolescent and Adult Citrin Deficiency (AACD)*. In Japan, where there is a high awareness of AACD*, its population frequency is 1:100,000 to 1:200,000, whereas the frequency of NICCD is approximately [...]
The onset of Adolescent and Adult Citrin Deficiency (AACD)* is not yet fully understood although there are a few triggers that are thought to contribute to its development (e.g., alcohol, overconsumption of carbohydrates or sugars, serious infections, certain medications) [Okano et al. 2019]. As such, [...]
Two independent organisations both have the name “Citrin Foundation”: Citrin Foundation (UK), a Charity registered in England and Wales (Charity no. 1216137) and Citrin Foundation Ltd. (Singapore), a Charity registered in Singapore (Company no. 201635027D). These organisations share a common mission which they each work to achieve (separately and in collaboration with each other). Each organisation is separate, independent and responsible for its own activities.
Citrin Foundation Ltd. (Singapore)
Registered as a Charity (Grantmaker) under the Charities Act 1994
Registered Office: 6 Temasek Boulevard Suntec Tower Four, Singapore 038986
Company limited by guarantee in Singapore (no. 201635027D)
© 2016 - 2026
Citrin Foundation (UK)
Registered as a Charity in England & Wales
Charity Registration Number 1216137
Registered Office: The Universal Building, 2nd floor, 364-366 Kensington High Street, London, W14 8NS
Company limited by guarantee in England and Wales (no. 15940318)
© 2024 - 2026
