Citrin deficiency: changing presentations, challenging assumptions

Citrin deficiency challenges familiar assumptions about urea cycle disorders, from its changing clinical presentations to its distinctive dietary and emergency management. James Nurse speaks with Johannes Häberle, Saikat Santra and Barbara Yu of the Citrin Foundation, with contributions from Jun Kido, to explore diagnosis and care across the lifespan, differences between populations, and the evidence behind current treatments.

The discussion also questions the misleading idea of a ‘silent’ phase. Interviews with adults living with citrin deficiency reveal symptoms and effects on daily life that can escape routine clinical assessment. We consider what these experiences mean for recognising disease burden, measuring meaningful treatment outcomes and putting patients at the centre of research, before looking ahead to better biomarkers, earlier diagnosis and future therapies.

The therapeutic landscape of citrin deficiency Toni Vuković, et al https://doi.org/10.1002/jimd.12768

Citrin deficiency—The East-side story Johannes Häberle https://doi.org/10.1002/jimd.12772

Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition Jun Kido, et al https://doi.org/10.1002/jimd.12722

Patient experience informing outcomes and research in rare disease: Citrin deficiency as a case study Yurika Asami, et al https://doi.org/10.1016/j.ymgme.2026.110141