Article
Citrin deficiency due to SLC25A13 exon deletion in a Chinese infant: A case report.
Medicine - 8 Dec 2023
Liu Jialing, Lin Shuangzhu, Guan Shihui, Chen Qiandui, Wang Xinyao, He Yufei, Qi Yangfan, Feng Jinhua, Liu Yushu
Abstract excerpt
INTRODUCTION: Citrin is a calcium-bound aspartate-glutamate carrier protein encoded by the gene SLC25A13, mutations of which can cause citrin deficiency, an autosomal recessive disorder. The manifestations of citrin deficiency include neonatal intrahepatic choledeposits caused by citrin deficiency (NICCD: OMIM#605814), intermediate growth disorders and dyslipidemia caused by citrin deficiency, and citrullinemia...
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