Citrin Foundation

Citrin Foundation

Research

Support

Cure

Research

Support

Cure

Who we are

Citrin Foundation is a non-profit, research-driven, patient-centred organization set up to tackle citrin deficiency, a monogenetic condition which is an inborn error of metabolism, as well as a urea cycle disorder.

Our goal is to ultimately find effective treatments and a cure for the condition. We fund research projects to better understand the condition and develop new therapies. We also provide support to citrin deficiency patients and their families globally.

The Foundation has committed USD30m to achieve our aims over the next 10 years.

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USD Committed
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Funded Projects

Mission And Vision

Our Research StrategyOur Research Strategy

There are two cornerstones to the Foundation’s mission, finding a cure for citrin deficiency and providing life-long support to citrin deficiency patients. We believe that a multi-disciplinary, innovative, and long-term approach will deliver breakthrough treatments and address the well-being of citrin deficiency patients holistically. Therefore, we seek to work with top scientists, researchers, and physicians who are in related fields around the world to solve this medical problem together.

We have developed the following list of objectives to achieve this:

  • Identify patients with Citrin Deficiency (CD) worldwide

  • Study the natural course of disease in large patient cohorts

  • Improve the diagnosis of CD

  • Understand the basic science and pathogenesis of the disease

  • Explore the benefit of existing therapies

  • Develop new therapies

  • Support affected patients and their families

What We Do

Citrin Foundation aims to act as a nexus connecting researchers, clinicians, biotech companies, and patients, our ultimate goal is to develop effective treatments and to find a cure for this condition.  ​

Research

Funding top scientist, researchers, physicians and fostering collaborations with leading institutes, biotechnology firms, and pharmaceutical companies to better understand CD and ultimately develop a cure for this condition.

Patient Support

Providing lifelong support to patients by facilitating meaningful interactions, offering guidance, and promoting the exchange of up-to-date information about the condition. Explore our patient-focused initiatives on our dedicated website. ​

Professional Network

Join us in becoming a vital part of our global consortium of scientific researchers and clinicians. Together, we collaborate openly, synergistically, and without competition to achieve our shared objectives. Be a part of something greater with us.​

Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review

Kido et al., 2025, Human Mutation

Latest Publication

We are pleased to announce a publication first authored by Jun Kido (Kumamoto University) and Johannes Häberle (University Children’s Hospital Zürich) as senior author. The publication titled “Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review” was published in Human Mutation.

Published on April 2025

Citrin Foundation Team

Citrin Foundation’s team works closely with our Scientific Supervisory Board and Advisors to realise our Foundation’s goals. You may find out more about our different teams by clicking the respective buttons.

Our Team

Scientific Supervisory Board

Advisors

What is Citrin Deficiency?

Citrin Deficiency (CD) is an inherited autosomal recessive metabolic disorder caused by mutations in the SLC25A13 gene, which encodes the mitochondrial aspartate-glutamate carrier involved in the malate-aspartate shuttle. ​

What is Citrin Deficiency?

Citrin Deficiency (CD) is an inherited autosomal recessive metabolic disorder caused by mutations in the SLC25A13 gene, which encodes the mitochondrial aspartate-glutamate carrier involved in the malate-aspartate shuttle. ​

News & Events

We held our third in-person Symposium from June 9th to 11th, 2025 at the Møller Institute, University of Cambridge. With over 80 participants including clinicians, scientists, dietitians, biotech representatives, patients, and families from 16 countries, it was our largest event to date. The program featured presentations and posters on biochemical mechanisms, diagnostics, novel models, and therapeutic strategies for citrin deficiency, as well as broader rare disease challenges. The symposium reflected the Foundation’s growing global network and continued commitment to accelerating research through cross-sector collaboration.