Results 21 to 30 of about 397 (122)

Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical features, genetic characteristics, and treatment outcomes [PDF]

BMC Gastroenterology
Background Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder with heterogeneous clinical manifestations.
Yigui Zou, Yu Dai, Liang Liu, Qinghua Yang, Wenwen Li, Yilin Dong, Sicong Li, Yongwei Cheng, Dongling Dai   +8 more
doaj   +2 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

Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).

PLoS ONE, 2014
Background and objectiveSLC25A13 analysis has provided reliable evidences for the definitive diagnosis of citrin deficiency (CD) in the past decade.
Zhan-Hui Zhang, Wei-Xia Lin, Mei Deng, Shu-Tao Zhao, Han-Shi Zeng, Feng-Ping Chen, Yuan-Zong Song   +6 more
doaj   +3 more sources

Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency. [PDF]

J Inherit Metab Dis
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).
Lacabanne D, Sowton AP, Jose B, Kunji ERS, Tavoulari S.   +4 more
europepmc   +9 more sources

Urinary reducing substances in neonatal intrahepatic cholestasis caused by citrin deficiency

Journal of Pediatric and Neonatal Individualized Medicine, 2014
Neonatal cholestasis due to citrin deficiency is an autosomal recessive metabolic disorder caused by mutations in SLC25A13 gene. Mutations in this gene have a relatively high prevalence in East-Asian races compared to European or Afro-Caribbean races ...
Ajmal Kader, Christina Ong, Veena Logarajah, Kong Boo Phua, Ee Shien Tan   +4 more
doaj   +2 more sources

Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022 [PDF]

Frontiers in Genetics
Inborn errors of metabolism (IEMs) are uncommon. Although some studies have explored the distribution and characteristics of IEMs in newborns, the impact of these disorders on hospitalized newborns remains unclear. In this study, we gathered data from 21,
Dongjuan Wang, Juan Zhang, Rui Yang, Dayong Zhang, Ming Wang, Chaowen Yu, Jingli Yang, Wenxia Huang, Shan Liu, Shi Tang, Xiaoyan He   +10 more
doaj   +2 more sources

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children.

The Malaysian journal of pathology, 2010
Citrin deficiency is an autosomal recessive disorder caused by mutation in the SLC25AJ3 gene. It has two major phenotypes: adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestatic caused by citrin deficiency (NICCD). NICCD is characterized by neonatal/infantile-onset cholestatic hepatitis syndrome associated with multiple amino ...
Hock Lock, Ngu, Md Yunus, Zabedah, Keiko, Kobayashi   +2 more
openaire   +2 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

Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemia

Molecular Genetics and Metabolism Reports, 2014
Background: Citrin, encoded by SLC25A13, is a component of the malate-aspartate shuttle, which is the main NADH-transporting system in the liver. Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD), which usually resolves within the first ...
Kiyoshi Hayasaka, Chikahiko Numakura, Kentaro Toyota, Satoru Kakizaki, Hisayoshi Watanabe, Hiroaki Haga, Hiroshi Takahashi, Yoshimi Takahashi, Mieko Kaneko, Mitsunori Yamakawa, Hiroyuki Nunoi, Takeo Kato, Yoshiyuki Ueno, Masatomo Mori   +13 more
doaj   +2 more sources

Adult-onset type II citrullinemia: Current insights and therapy

The Application of Clinical Genetics, 2018
Kiyoshi Hayasaka,1,2 Chikahiko Numakura1 1Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan; 2Department of Pediatrics, Miyukikai Hospital, Kaminoyama, Japan Abstract: Citrin deficiency is a recessively inherited metabolic
Hayasaka K, Numakura C
doaj   +1 more source