Citrin Deficiency (CD) is a rare genetic metabolic disorder that is also a secondary urea cycle disorder (UCD). Specifically, people with CD should limit their consumption of carbohydrates such as rice, bread, and pasta. Instead, patients should focus on consuming foods that are high in fat and protein, such as meat, eggs and nuts. This type of diet can help to minimize the accumulation of toxic substances in the blood and allow individuals with Citrin Deficiency to lead a normal life.
This condition is caused by variants in the SLC25A13 gene which is a gene that creates a protein called ‘citrin’ in our body. Citrin is a mitochondrial carrier of amino acids called ‘aspartate’ and ‘glutamate’. It helps transport ‘glutamate’ from the cytoplasm to mitochondria and brings back aspartate from the mitochondria to the cytoplasm during the urea cycle. However, in CD, as the variants in SLC25A13 either produces no citrin protein, or incomplete/dysfunctional citrin proteins, the transportation of the amino acids could not be performed. This leads to the malfunction of metabolism.
Clinical presentations and symptoms of citrin deficiency
Patients with Citrin deficiency may experience various symptoms at different stages of their lives. Please refer to the table below for more information.
Please note that not all patients experience all these symptoms. There are patients who do not present any symptoms of NICCD or any symptoms during the adaptation period. It is also said that most patients can avoid the onset of CTLN2 with the proper diet, appropriate measurement, and periodical checkup and doctor consultation. The symptoms and severity of citrin deficiency depend on the biological structure, age, and nutritional status of the person at the time.
Connect with the Citrin Foundation
Citrin Foundation is a research-driven, not-for-profit organization set up to tackle citrin deficiency. Their goal is to ultimately find effective treatments and a cure for the condition. They are the only organization that provides support to CD patients and their families globally. Please visit their patient website for more information on their patient engagement initiatives. They offer helpful resources including a comprehensive guide to CD and resources that could be used to explain CD at schools and workplaces. They have a recipe log to help patients and families manage their diet more easily. They also offer an informal peer support group for those who are looking for a community to share experiences or questions.
If you are a CD patient or family, please register with the Citrin Foundation here. Membership is free.