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Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test.

Molecular genetics and metabolism - 1 Aug 2022

Chen Hui-An, Hsu Rai-Hseng, Chen Yu-Han, Hsu Li-Wen, Chiang Shu-Chang, Lee Ni-Chung, Hwu Wuh-Liang, Chiu Pao-Chin, Chien Yin-Hsiu

Abstract excerpt

BACKGROUND: Citrin deficiency is an autosomal recessive disorder caused by variants of the SLC25A13 gene. Although newborn screening (NBS) provides an opportunity for its early diagnosis and treatment, citrin deficiency detection rates remain lower than those estimated. METHODS: Before 2018, NBS for citrin deficiency was based on citrulline levels alone. In June 2018, a second-tier molecular test was implemented...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35798653
DOI: 10.1016/j.ymgme.2022.06.007

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