ReviewJournal of inherited metabolic disease2025
Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency.
Review in Journal of inherited metabolic disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- FoxO transcription factors coordinate the urea cycle and gluconeogenesis by controllingiScience · 2026Article
- Recurrent Hyperammonemic Encephalopathy in Adults with Citrin Deficiency: A Case Report of Two Genetically Confirmed Cases.Journal of clinical medicine · 2026Article
- A pediatric case of citrin deficiency presenting with recurrent hypertriglyceridemic pancreatitis-a case report.Frontiers in pediatrics · 2026Article
- Mitochondrial proteins contribute to the pathogenesis of myasthenia gravis.Scientific reports · 2025Article
- Developing an explainable machine learning model to predict false-negative citrin deficiency cases in newborn screening.Orphanet journal of rare diseases · 2025Article
- Are Hippocampal Hypoperfusion and ATP Depletion Prime Movers in the Genesis of Alzheimer's Disease? A Review of Recent Pertinent Observations from Molecular Biology.International journal of molecular sciences · 2025Review
- Characteristics of patients with neonatal intrahepatic cholestasis caused by citrin deficiency in China: long-term follow-up outcomes.Jornal de pediatriaArticle
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Authors and funding
5 authors.
Funding
Abstract
Citrin deficiency (CD) is a complex mitochondrial disease with three different age-related stages: neonatal intrahepatic cholestasis caused by CD (NICCD), failure to thrive and dyslipidemia caused by CD (FTTDCD), and type II citrullinemia (CTLN2), recently renamed adolescent and adult CD (AACD). While highly prevalent in the Asian population, CD is pan-ethnic and remains severely underdiagnosed. The disease is caused by the dysfunction or absence of the mitochondrial aspartate/glutamate carrier 2 (AGC2/SLC25A13), also known as citrin. Citrin deficiency results in a direct impairment of the malate-aspartate shuttle and the urea cycle, with expected knock-on effects on a multitude of other metabolic pathways, leading to a complicated pathophysiology. Here, we discuss our current knowledge of the molecular mechanism of substrate transport by citrin, including recent advances suggesting against its calcium regulation. We also discuss the different types of pathogenic variants found in CD patients and new insights into their pathogenic mechanisms. Additionally, we provide a summary and assessment of the efforts to develop preclinical models as well as treatments for the disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.