Results 11 to 20 of about 1,678 (140)

Fatal Non‐Hepatic Hyperammonemia Post‐Glofitamab: Ureaplasma and Genetic Susceptibility: A Case Report [PDF]

Immunity, Inflammation and Disease
Background Although primarily reported in solid organ transplant recipients and patients undergoing chimeric antigen receptor T‐cell immunotherapy (CAR‐T), non‐hepatic hyperammonemia (NHHA) is a rare but lethal complication in the broader context of post‐
Yinshan Wu, Xiuliu Guo, Xiaoling Wang, Feng Guo   +3 more
doaj   +3 more sources

Cholestatic Liver Failure and Hypoglycemia in a Newborn: A Mitochondrial Pathology due to Citrin Deficiency [PDF]

Clinical Case Reports
In an infant with cholestasis and recurrent hypoglycemia, the combination of hypercitrullinemia, hypermethioninemia, and hyperthreoninemia should prompt testing for citrin deficiency, because early metabolic and genetic diagnosis allows targeted ...
Julien Neveu, Mathilde Butori, Anne Spraul, Charlotte Hinault‐Boyer, Mourad Naïmi   +4 more
doaj   +3 more sources

Homozygous SLC25A13 Mutation in a Taiwanese Patient With Adult-Onset Citrullinemia Complicated With Steatosis and Hepatocellular Carcinoma

Journal of the Formosan Medical Association, 2006
Citrullinemia is a metabolic disorder characterized by elevated plasma concentrations of citrulline and ammonia. Adult-onset citrullinemia (type II, CTLN2) has been attributed to citrin deficiency caused by mutations in the SLC25A13 gene.
Li-Chun Chang, Chih-Chao Yang, Wuh-liang Hwu   +2 more
exaly   +5 more sources

SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China. [PDF]

PLoS ONE, 2013
BACKGROUND: The human SLC25A13 gene encodes citrin, the liver-type mitochondrial aspartate/glutamate carrier isoform 2 (AGC2), and SLC25A13 mutations cause citrin deficiency (CD), a disease entity that encompasses different age-dependant clinical ...
Yuan-Zong Song, Zhan-Hui Zhang, Wei-Xia Lin, Xin-Jing Zhao, Mei Deng, Yan-Li Ma, Li Guo, Feng-Ping Chen, Xiao-Ling Long, Xiang-Ling He, Yoshihide Sunada, Shun Soneda, Akiko Nakatomi, Sumito Dateki, Lock-Hock Ngu, Keiko Kobayashi, Takeyori Saheki   +16 more
doaj   +3 more sources

p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency [PDF]

The Turkish Journal of Pediatrics, 2017
Citrin deficiency is an autosomal recessive metabolic disorder, which is caused by pathogenic mutations in the SLC25A13 gene on chromosome 7q21.3, as the causative gene that encodes the liver type aspartate/glutamate carrier isoform 2 (AGC2). One of the
Berna Şeker-Yılmaz, Deniz Kör, Gökhan Tümgör, Serdar Ceylaner, Neslihan Önenli-Mungan   +4 more
doaj   +3 more sources

Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency with SLC25A13 Mutation Presenting Hepatic Steatosis and Prolonged Jaundice. A Rare Case Report

Medicina, 2021
Background: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a rare autosomal recessive disease. The incidence of citrin deficiency is estimated between 1/10,000 and 1/20,000 in Taiwan. Case report: This report describes a case of
Shu-Wei Hu, Wen-Li Lu, I-Ping Chiang, Shu-Fen Wu, Chung-Hsing Wang, An-Chyi Chen   +5 more
doaj   +2 more sources

Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among thai infants [PDF]

BMC Gastroenterology, 2012
Background The most common causes of cholestatic jaundice are biliary atresia and idiopathic neonatal hepatitis (INH). Specific disorders underlying INH, such as various infectious and metabolic causes, including neonatal intrahepatic cholestasis caused ...
Treepongkaruna Suporn, Jitraruch Suttiruk, Kodcharin Porawee, Charoenpipop Dussadee, Suwannarat Pim, Pienvichit Paneeya, Kobayashi Keiko, Wattanasirichaigoon Duangrurdee   +7 more
doaj   +3 more sources

Identification and Validation of cGAS‐STING Pathway‐Associated Predictive and Therapeutic Models for Esophageal Squamous Cell Cancer Patients via Artificial Intelligence and Multi‐Omics [PDF]

Cancer Medicine
Background Esophageal squamous cell cancer (ESCC) is a malignancy derived from the Esophagus, and dysregulation of the cGAS‐STING pathway contributes to ESCC progression.
Chunyang Zhou, Xiaoli Liu, Zijian Wang, Tao Yang   +3 more
doaj   +2 more sources

Citrin Deficiency: Biochemical Mechanisms Underlying a Complex Hepatic Metabolic Disorder [PDF]

Biomolecules
Citrin Deficiency (CD), caused by pathogenic variants in SLC25A13, is a rare inherited metabolic disorder with age-dependent manifestations ranging from neonatal intrahepatic cholestasis to adult-onset citrullinemia.
Ismael García-Lobo, Araceli del Arco, Jorgina Satrústegui, Laura Contreras   +3 more
doaj   +2 more sources

Genetic Analysis of Peroxisomal Genes Required for Longevity in a Yeast Model of Citrin Deficiency

Diseases, 2020
Citrin is a liver-specific mitochondrial aspartate−glutamate carrier encoded by SLC25A13. Citrin deficiency caused by SLC25A13 mutation results in carbohydrate toxicity, citrullinemia type II, and fatty liver diseases, the mechanisms of some of ...
Chalongchai Chalermwat, Thitipa Thosapornvichai, Laran T. Jensen, Duangrurdee Wattanasirichaigoon   +3 more
doaj   +2 more sources