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A Case of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) Confirmed by SLC25A13 Mutation

, 2014
Citrullinemia type 2 (citrin deficiency) is an autosomal recessive inborn error metabolism, caused by the SLC25A13 gene mutation. Citrin deficiency is associated with two clinical phenotype; neonatalonset type II citrullinemia (CTLN2), also known as ...
손, 영배, 이, 수연, 장, 주영, 박, 형두   +3 more
core  

Carrier Frequency and Prevalence of Citrin Deficiency in East Asians and Koreans Based on Comprehensive Analysis of Pathogenic <i>SLC25A13</i> Variants. [PDF]

Ann Lab Med
Jang MA, Heo WY, Lee JK, Kim JW, Kim SM, Jang JH, Park HD.   +6 more
europepmc   +1 more source

Biochemical characteristics, genetic variants and treatment outcomes of 55 Chinese cases with neonatal intrahepatic cholestasis caused by citrin deficiency. [PDF]

Front Pediatr
Li J, Duan J, He S, Li Y, Wang M, Deng C.   +5 more
europepmc   +1 more source

Serum procalcitonin as a marker of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). [PDF]

Clinics (Sao Paulo)
Jiang T, Ouyang WX, Tan YF, Yu Y, Qin XM, Luo HY, Tang L, Zhang H, Li SJ.   +8 more
europepmc   +1 more source

Neonatal classical galactosaemia presenting as citrin deficiency

Journal of Hepatology, 2008
McKiernan, Patrick J., Baumann, Ulrich
openaire   +1 more source

[Full-cycle, multidisciplinary and systematic management of citrin deficiency]. [PDF]

Zhonghua Gan Zang Bing Za Zhi
Song YZ, Deng M, Guo L, Lin WX.
europepmc   +1 more source

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Citrin deficiency and current treatment concepts

Molecular Genetics and Metabolism, 2010
In this paper, we describe the historical aspects of citrin and citrin deficiency, characteristic food preference and food aversion of citrin-deficient subjects, and carbohydrate toxicity in relation to ureogenesis and issues of the conventional treatment procedures for hyperammonemia in citrin deficiency, leading to current treatment concepts for ...
Takeyori Saheki, Keiko Kobayashi
exaly   +3 more sources

Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening [PDF]

Journal of Inherited Metabolic Disease
Citrin deficiency is an autosomal recessive disorder caused by a defect of citrin resulting from mutations in the SLC25A13 gene. Intrahepatic cholestasis and various metabolic abnormalities, including hypoglycemia, galactosemia, citrullinemia, and ...
Jun Kido, Chikahiko Numakura, Shinichiro Yoshida   +2 more
exaly   +4 more sources