ReviewBiomolecules2020
AGC2 (Citrin) Deficiency-From Recognition of the Disease till Construction of Therapeutic Procedures.
Review in Biomolecules, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 30 citations in OpenAlex.
- Aspartate-Glutamate Carrier 1 (International journal of molecular sciences · 2026Review
- A pediatric case of citrin deficiency presenting with recurrent hypertriglyceridemic pancreatitis-a case report.Frontiers in pediatrics · 2026Article
- Glycerol-3-phosphate activates ChREBP, FGF21 transcription and lipogenesis in citrin deficiency.Nature metabolism · 2025Article
- Current Treatment Modalities for Urea Cycle Disorders.Paediatric drugs · 2025Review
- Global research dynamics in urea cycle disorders: a bibliometric study highlighting key players and future directions.Orphanet journal of rare diseases · 2025Article
- Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency.Journal of inherited metabolic disease · 2025Review
- Enhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines.Orphanet journal of rare diseases · 2025Article
- Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.Human mutation · 2025Article
- The therapeutic landscape of citrin deficiency.Journal of inherited metabolic disease · 2024Review
- [Full-cycle, multidisciplinary and systematic management of citrin deficiency].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2024Article
- Serum procalcitonin as a marker of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).Clinics (Sao Paulo, Brazil) · 2024Article
- Aspartic Acid in Health and Disease.Nutrients · 2023Review
- Aspartate-glutamate carrier 2 (citrin): a role in glucose and amino acid metabolism in the liver.BMB reports · 2023Review
- Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver.Molecular genetics and metabolism reports · 2023Article
- Citrin Deficiency: Clinical and Nutritional Features.Nutrients · 2023Review
- The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis.Journal of human genetics · 2023Article
- Challenges in pediatric inherited/metabolic liver disease: Focus on the disease spectrum, diagnosis and management of relatively common disorders.World journal of gastroenterology · 2023Review
- Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.Trends in endocrinology and metabolism: TEM · 2022Review
- AGC1 Deficiency: Pathology and Molecular and Cellular Mechanisms of the Disease.International journal of molecular sciences · 2022Review
- Dynamic changes of metabolic characteristics in neonatal intrahepatic cholestasis caused by citrin deficiency.Frontiers in molecular biosciences · 2022Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Can you imagine a disease in which intake of an excess amount of sugars or carbohydrates causes hyperammonemia? It is hard to imagine the intake causing hyperammonemia. AGC2 or citrin deficiency shows their symptoms following sugar/carbohydrates intake excess and this disease is now known as a pan-ethnic disease. AGC2 (aspartate glutamate carrier 2) or citrin is a mitochondrial transporter which transports aspartate (Asp) from mitochondria to cytosol in exchange with glutamate (Glu) and H
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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 OpenQuestion graph.