{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T11:31:07Z","timestamp":1791199867591,"version":"4.2.0"},"reference-count":70,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2023,5,12]],"date-time":"2023-05-12T00:00:00Z","timestamp":1683849600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nutrients"],"abstract":"<jats:p>SLC25A13 gene mutations are responsible for diseases related to citrin deficiency (CD), such as neonatal intrahepatic cholestasis caused by citrin deficiency and adult-onset type II citrullinemia (CTLN2). From childhood to adulthood, CD patients are apparently healthy due to metabolic compensation with peculiar dietary habits\u2014disliking high-carbohydrate foods and liking fat and protein-rich foods. Carbohydrate overload and alcohol consumption may trigger the sudden onset of CTLN2, inducing hyperammonemia and consciousness disturbance. Well-compensated asymptomatic CD patients are sometimes diagnosed as having non-obese (lean) non-alcoholic fatty liver disease and steatohepatitis, which have the risk of developing into liver cirrhosis and hepatocellular carcinoma. CD-induced fatty liver demonstrates significant suppression of peroxisome proliferator-activated receptor \u03b1 and its downstream enzymes\/proteins involved in fatty acid transport and oxidation and triglyceride secretion as a very low-density lipoprotein. Nutritional therapy is an essential and important treatment of CD, and medium-chain triglycerides oil and sodium pyruvate are useful for preventing hyperammonemia. We need to avoid the use of glycerol for treating brain edema by hyperammonemia. This review summarizes the clinical and nutritional features of CD-associated fatty liver disease and promising nutritional interventions.<\/jats:p>","DOI":"10.3390\/nu15102284","type":"journal-article","created":{"date-parts":[[2023,5,12]],"date-time":"2023-05-12T02:36:59Z","timestamp":1683859019000},"page":"2284","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Citrin Deficiency: Clinical and Nutritional Features"],"prefix":"10.3390","volume":"15","author":[{"given":"Michiharu","family":"Komatsu","sequence":"first","affiliation":[{"name":"Department of Gastroenterology, Suwa Red Cross Hospital, Suwa 392-8510, Nagano, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3212-3836","authenticated-orcid":false,"given":"Naoki","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Department of Global Medical Research Promotion, Shinshu University Graduate School of Medicine, Matsumoto 390-8621, Nagano, Japan"},{"name":"International Relations Office, Shinshu University School of Medicine, Matsumoto 390-8621, Nagano, Japan"},{"name":"Research Center for Social Systems, Shinshu University, Matsumoto 390-8621, Nagano, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takefumi","family":"Kimura","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Shinshu University School of Medicine, Matsumoto 390-8621, Nagano, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5520-6530","authenticated-orcid":false,"given":"Masahide","family":"Yazaki","sequence":"additional","affiliation":[{"name":"Department of Neuro-Health Innovation, Institute for Biomedical Sciences, Shinshu University, Matsumoto 390-8621, Nagano, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,5,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"5060","DOI":"10.1093\/emboj\/20.18.5060","article-title":"Citrin and aralar1 are Ca2+-stimulated aspartate\/glutamate transporters in mitochondria","volume":"20","author":"Palmieri","year":"2001","journal-title":"EMBO J."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.hepres.2005.09.031","article-title":"Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier","volume":"33","author":"Saheki","year":"2005","journal-title":"Hepatol. Res."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1007\/s100380200046","article-title":"Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis","volume":"47","author":"Saheki","year":"2002","journal-title":"J. Hum. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1038\/9667","article-title":"The gene mutated in adult-onset type II citrullinemia encodes a putative mitochondrial carrier protein","volume":"22","author":"Kobayashi","year":"1999","journal-title":"Nat. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1002\/humu.10022","article-title":"Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations","volume":"19","author":"Yamaguchi","year":"2002","journal-title":"Hum. Mutat."},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Song, Y.Z., Zhang, Z.H., Lin, W.X., Zhao, X.J., Deng, M., Ma, Y.L., Guo, L., Chen, F.P., Xiao-Ling Long, X.L., and He, X.L. (2013). SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0074544"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"29732","DOI":"10.1038\/srep29732","article-title":"Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution","volume":"6","author":"Lin","year":"2016","journal-title":"Sci. Rep."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1016\/S1096-7192(03)00140-9","article-title":"Screening of nine SLC25A13 mutations: Their frequency in patients with citrin deficiency and high carrier rates in Asian populations","volume":"80","author":"Kobayashi","year":"2003","journal-title":"Mol. Genet. Metab."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1007\/s10038-005-0262-8","article-title":"Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency","volume":"50","author":"Lu","year":"2005","journal-title":"J. Hum. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"654527","DOI":"10.3389\/fped.2021.654527","article-title":"Rapid Genetic Diagnosis of Citrin Deficiency by Multicolor Melting Curve Analysis","volume":"9","author":"Zeng","year":"2021","journal-title":"Front. Pediatr."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1658","DOI":"10.21037\/tp-21-58","article-title":"Molecular epidemiologic study of citrin deficiency by screening for four reported pathogenic SLC25A13 variants in the Shaanxi and Guangdong provinces, China","volume":"10","author":"Lin","year":"2021","journal-title":"Transl. Pediatr."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.ymgme.2011.08.022","article-title":"A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): A clinical, molecular, and functional study","volume":"104","author":"Fiermonte","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1007\/s10038-008-0282-2","article-title":"Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency","volume":"53","author":"Tabata","year":"2008","journal-title":"J. Hum. Genet."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.ymgme.2008.10.007","article-title":"Citrin deficiency, a perplexing global disorder","volume":"96","author":"Dimmock","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"ref_15","first-page":"328","article-title":"Failure to thrive and dyslipidemia caused by citrin deficiency: A novel clinical phenotype","volume":"11","author":"Song","year":"2009","journal-title":"Zhongguo Dang Dai Er. Ke Za Zhi"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1007\/s00431-002-1045-2","article-title":"Neonatal intrahepatic cholestasis caused by citrin deficiency: Severe hepatic dysfunction in an infant requiring liver transplantation","volume":"161","author":"Tamamori","year":"2002","journal-title":"Eur. J. Pediatr."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"E86","DOI":"10.1111\/j.1399-3046.2009.01172.x","article-title":"Liver transplantation for an infant with neonatal intrahepatic cholestasis caused by citrin deficiency using heterozygote living donor","volume":"14","author":"Shigeta","year":"2010","journal-title":"Pediatr. Transpl."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/j.ymgme.2019.06.004","article-title":"Current treatment for citrin deficiency during NICCD and adaptation\/compensation stages: Strategy to prevent CTLN2","volume":"127","author":"Okano","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"2203","DOI":"10.1023\/A:1026439913915","article-title":"Hepatocellular carcinoma associated with adult-type citrullinemia","volume":"45","author":"Ito","year":"2000","journal-title":"Dig. Dis. Sci."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1016\/S0929-6646(09)60274-6","article-title":"Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma","volume":"105","author":"Tsai","year":"2006","journal-title":"J. Formos. Med. Assoc."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"e20181931","DOI":"10.1542\/peds.2018-1931","article-title":"A 6-Year-Old Child with Citrin Deficiency and Advanced Hepatocellular Carcinoma","volume":"143","author":"Wang","year":"2019","journal-title":"Pediatrics"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"371","DOI":"10.3389\/fped.2019.00371","article-title":"A Case Report: Can Citrin Deficiency Lead to Hepatocellular Carcinoma in Children?","volume":"7","author":"He","year":"2019","journal-title":"Front. Pediatr."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/j.jhep.2005.08.024","article-title":"Adult onset type II citrullinemia as a cause of non-alcoholic steatohepatitis","volume":"44","author":"Takagi","year":"2006","journal-title":"J. Hepatol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"A32","DOI":"10.1016\/j.cgh.2006.06.014","article-title":"A lean man with nonalcoholic fatty liver disease","volume":"5","author":"Tanaka","year":"2007","journal-title":"Clin. Gastroenterol. Hepatol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1002\/lt.20131","article-title":"Feasibility of auxiliary partial orthotopic liver transplantation from living donors for patients with adult-onset type II citrullinemia","volume":"10","author":"Yazaki","year":"2004","journal-title":"Liver Transpl."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1016\/j.jhep.2008.05.016","article-title":"Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease","volume":"49","author":"Komatsu","year":"2008","journal-title":"J. Hepatol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1136\/pgmj.2006.050591","article-title":"Genetic background of pancreatitis","volume":"82","author":"Hirota","year":"2006","journal-title":"Postgrad. Med. J."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"W109","DOI":"10.7326\/0003-4819-141-7-200410050-00028-w1","article-title":"Chronic pancreatitis associated with adult-onset type II citrullinemia: Clinical and pathologic findings","volume":"141","author":"Ikeda","year":"2004","journal-title":"Ann. Intern. Med."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1111\/j.1572-0241.2007.01562_7.x","article-title":"Pancreatic exocrine insufficiency: A rare cause of nonalcoholic steatohepatitis","volume":"103","author":"Tanaka","year":"2008","journal-title":"Am. J. Gastroenterol."},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Saheki, T., Moriyama, M., Funahashi, A., and Kuroda, E. (2020). AGC2 (Citrin) Deficiency-From Recognition of the Disease till Construction of Therapeutic Procedures. Biomolecules, 10.","DOI":"10.3390\/biom10081100"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"25041","DOI":"10.1074\/jbc.M702031200","article-title":"Citrin\/mitochondrial glycerol 3-phosphate double-knockout mice recapitulate features of human citrin deficiency","volume":"282","author":"Saheki","year":"2007","journal-title":"J. Biol. Chem."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1154","DOI":"10.1016\/0016-5085(94)90241-0","article-title":"Impaired ketogenesis in patients with adult-type citrullinemia","volume":"107","author":"Inui","year":"1994","journal-title":"Gastroenterology"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"5678","DOI":"10.1074\/jbc.273.10.5678","article-title":"Altered constitutive expression of fatty acid-metabolizing enzymes in mice lacking the peroxisome proliferator-activated receptor \u03b1 (PPAR\u03b1)","volume":"273","author":"Aoyama","year":"1998","journal-title":"J. Biol. Chem."},{"key":"ref_34","first-page":"683","article-title":"PPAR\u03b1 activation is essential for HCV core protein-induced hepatic steatosis and hepatocellular carcinoma in mice","volume":"118","author":"Tanaka","year":"2008","journal-title":"J. Clin. Investig."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1002\/hep.510260217","article-title":"Focal glycogenosis of the liver in disorders of ureagenesis: Its occurrence and diagnostic significance","volume":"26","author":"Badizadegan","year":"1997","journal-title":"Hepatology"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/j.pharmthera.2017.05.011","article-title":"Targeting nuclear receptors for the treatment of fatty liver disease","volume":"179","author":"Tanaka","year":"2017","journal-title":"Pharmacol. Ther."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"163","DOI":"10.3748\/wjg.v25.i2.163","article-title":"Current status, problems, and perspectives of non-alcoholic fatty liver disease research","volume":"25","author":"Tanaka","year":"2019","journal-title":"World J. Gastroenterol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1016\/j.bbadis.2014.12.011","article-title":"Steatogenesis in adult-onset type II citrullinemia is associated with down-regulation of PPAR\u03b1","volume":"1852","author":"Komatsu","year":"2015","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1016\/j.cca.2011.04.013","article-title":"The role of oxidative stress in non-alcoholic steatohepatitis","volume":"412","author":"Koek","year":"2011","journal-title":"Clin. Chim. Acta"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/j.atherosclerosis.2006.02.032","article-title":"Metabolic syndrome and urinary cGMP excretion in general population","volume":"190","author":"Cui","year":"2007","journal-title":"Atherosclerosis"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1016\/j.freeradbiomed.2006.04.004","article-title":"Inefficient spin trapping of superoxide in the presence of nitric-oxide: Implications for studies on nitric-oxide synthase uncoupling","volume":"41","author":"Pignitter","year":"2006","journal-title":"Free Radic. Biol. Med."},{"key":"ref_42","first-page":"215","article-title":"Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond","volume":"157C","author":"Erez","year":"2011","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"869","DOI":"10.3109\/10715762.2013.837577","article-title":"Involvement of free radicals and oxidative stress in NAFLD\/NASH","volume":"47","author":"Sumida","year":"2013","journal-title":"Free Radic. Res."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"758","DOI":"10.3109\/10715762.2012.677840","article-title":"Fatty liver induced by free radicals and lipid peroxidation","volume":"46","author":"Morita","year":"2012","journal-title":"Free Radic. Res."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1007\/s10545-008-0752-x","article-title":"Reduced carbohydrate intake in citrin-deficient subjects","volume":"31","author":"Saheki","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_46","doi-asserted-by":"crossref","unstructured":"Pinto, A., Ashmore, C., Batzios, S., Daly, A., Dawson, C., Dixon, M., Evans, S., Green, D., Gribben, J., and Hunjan, I. (2020). Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK. Nutrients, 12.","DOI":"10.3390\/nu12113313"},{"key":"ref_47","doi-asserted-by":"crossref","unstructured":"Okamoto, M., Okano, Y., Okano, M., Yazaki, M., Inui, A., Ohura, T., Murayama, K., Watanabe, Y., Tokuhara, D., and Takeshima, Y. (2021). Food Preferences of Patients with Citrin Deficiency. Nutrients, 13.","DOI":"10.3390\/nu13093123"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.ymgme.2021.03.004","article-title":"Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemia","volume":"133","author":"Okano","year":"2021","journal-title":"Mol. Genet. Metab."},{"key":"ref_49","first-page":"33","article-title":"Genotypic and phenotypic features of citrin deficiency: Five-year experience in a Chinese pediatric center","volume":"28","author":"Song","year":"2011","journal-title":"Int. J. Mol. Med."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1620\/tjem.240.323","article-title":"Effectiveness of Medium-Chain Triglyceride Oil Therapy in Two Japanese Citrin-Deficient Siblings: Evaluation Using Oral Glucose Tolerance Tests","volume":"240","author":"Otsuka","year":"2016","journal-title":"Tohoku J. Exp. Med."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"188","DOI":"10.2169\/internalmedicine.44.188","article-title":"Risk of worsened encephalopathy after intravenous glycerol therapy in patients with adult-onset type II citrullinemia (CTLN2)","volume":"44","author":"Yazaki","year":"2005","journal-title":"Intern. Med."},{"key":"ref_52","first-page":"CS13-5","article-title":"A case of adult-onset type II citrullinemia: Deterioration of clinical course after infusion of hyperosmotic and high sugar solutions","volume":"12","author":"Takahashi","year":"2006","journal-title":"Med. Sci. Monit."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1007\/8904_2011_42","article-title":"Treatment with lactose (galactose)-restricted and medium-chain triglyceride-supplemented formula for neonatal intrahepatic cholestasis caused by citrin deficiency","volume":"2","author":"Hayasaka","year":"2012","journal-title":"JIMD Rep."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.ymgmr.2013.12.002","article-title":"Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemia","volume":"1","author":"Hayasaka","year":"2014","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1002\/jimd.12294","article-title":"Metabolic basis and treatment of citrin deficiency","volume":"44","author":"Hayasaka","year":"2021","journal-title":"J. Inherit Metab Dis"},{"key":"ref_56","doi-asserted-by":"crossref","unstructured":"Abuduxikuer, K., Chen, R., Wang, Z.L., and Wang, J.S. (2019). Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications. BMC Pediatr., 19.","DOI":"10.1186\/s12887-018-1383-5"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"163","DOI":"10.2147\/TACG.S162084","article-title":"Adult-onset type II citrullinemia: Current insights and therapy","volume":"11","author":"Hayasaka","year":"2018","journal-title":"Appl. Clin. Genet."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1007\/s10545-018-0176-1","article-title":"Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult-onset type II citrullinemia","volume":"41","author":"Hayasaka","year":"2018","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"S343","DOI":"10.1007\/s10545-008-0914-x","article-title":"Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate","volume":"31","author":"Mutoh","year":"2008","journal-title":"I Inherit. Metab. Dis."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1542","DOI":"10.1016\/j.clineuro.2012.12.027","article-title":"A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine","volume":"115","author":"Yazaki","year":"2013","journal-title":"Clin. Neurol. Neurosurg."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1111\/hepr.12170","article-title":"Three cases of adult-onset type II citrullinemia treated with different therapies: Efficacy of sodium pyruvate and low-carbohydrate diet","volume":"44","author":"Kogure","year":"2014","journal-title":"Hepatol. Res."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"844","DOI":"10.5692\/clinicalneurol.50.844","article-title":"Therapeutic approaches for patients with adult-onset type II citrullinemia (CTLN2): Effectiveness of treatment with low-carbohydrate diet and sodium pyruvate","volume":"50","author":"Yazaki","year":"2010","journal-title":"Rinsho Shinkeigaku"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1053\/siny.2002.0098","article-title":"Pharmacological interventions for the treatment of neonatal jaundice","volume":"7","author":"Dennery","year":"2002","journal-title":"Semin. Neonatal."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"424","DOI":"10.24953\/turkjped.2020.03.009","article-title":"Evaluating the effects of different doses of ursodeoxycholic acid on neonatal jaundice","volume":"62","author":"Gharehbaghi","year":"2020","journal-title":"Turk. J. Pediatr."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1053\/j.gastro.2008.10.082","article-title":"Effective treatment of unconjugated hyperbilirubinemia with oral bile salts in Gunn rats","volume":"136","author":"Cuperus","year":"2009","journal-title":"Gastroenterology"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"7331","DOI":"10.3748\/wjg.v21.i23.7331","article-title":"Citrin deficiency presenting as acute liver failure in an eight-month-old infant","volume":"21","author":"Zhang","year":"2015","journal-title":"World J. Gastroenterol."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"3432","DOI":"10.1016\/j.transproceed.2013.06.016","article-title":"Liver transplantation versus conservative treatment for adult-onset type II citrullinemia: Our experience and a review of the literature","volume":"45","author":"Kimura","year":"2013","journal-title":"Transpl. Proc."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1016\/j.jceh.2019.12.006","article-title":"Living Donor Liver Transplantation in a Paediatric Patient with Citrullinaemia Type 2","volume":"10","author":"Maharaj","year":"2020","journal-title":"J. Clin. Exp. Hepatol."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1111\/j.1872-034X.2012.00992.x","article-title":"First two cases of adult-onset type II citrullinemia successfully treated by deceased-donor liver transplantation in Japan","volume":"42","author":"Yazaki","year":"2012","journal-title":"Hepatol. Res."},{"key":"ref_70","doi-asserted-by":"crossref","unstructured":"Wang, Y., Nakajima, T., Gonzalez, F.J., and Tanaka, N. (2020). PPARs as Metabolic Regulators in the Liver: Lessons from Liver-Specific PPAR-Null Mice. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21062061"}],"container-title":["Nutrients"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2072-6643\/15\/10\/2284\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T19:33:27Z","timestamp":1760124807000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2072-6643\/15\/10\/2284"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,12]]},"references-count":70,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2023,5]]}},"alternative-id":["nu15102284"],"URL":"https:\/\/doi.org\/10.3390\/nu15102284","relation":{},"ISSN":["2072-6643"],"issn-type":[{"value":"2072-6643","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,12]]}}}