15. Value of tandem mass spectrometry in screening for citrin deficiency in children aged 0 - 6 months
Main Article Content
Abstract
Citrin deficiency is an autosomal recessive metabolic disorder caused by mutations in the SLC25A13 gene, affecting various metabolic processes such as glycolysis, glucose synthesis, amino acid metabolism, the urea cycle, and lipid metabolism. Tandem mass spectrometry (MS/MS) is a useful tool for newborn screening; however, the sensitivity and specificity of MS/MS screening are not high, leading to numerous false-negative and false-positive cases. Neonatal and high-risk screening using MS/MS has been conducted at the National Children’s Hospital since 2018, revealing a relatively high rate of suspected citrin deficiency cases, especially in the 0 - 6 month age group. A retrospective study of data from January 2018 to May 2024 aimed to evaluate the value of the MS/MS method in screening for citrin deficiency in the 0 - 6 month age group. Results showed that Citrulline levels in dried blood spot samples for citrin deficiency screening in high-risk infants aged 0 to 6 months had sensitivity, specificity, positive predictive value, and negative predictive value of 100%, 99.5%, 82.9%, and 100%, respectively. The combination of Cit, Cit/Lys, and Cit/Ser indices had sensitivity, specificity, positive predictive value, and negative predictive value of 98.9%, 99.7%, 87.5%, and 100%, respectively. Compared to using the Cit index alone, this combination reduces sensitivity but improves specificity and positive predictive value in detecting citrin deficiency using the MS/MS method.
Article Details
Keywords
Citrin deficiency, newborn screening, tandem mass (MS/MS), neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
References
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