Effects of Citrin Deficiency in the Perinatal Period: Feasibility of Newborn Mass Screening for Citrin Deficiency

Abstract

Deficiency of citrin due to mutations of the SLC25A13 gene causes adult-onset type II citrullinemia (CTLN2) and one type of neonatal intrahepatic cholestasis (NICCD). About half of the NICCD patients are detected based on high galactose, phenylalanine, and/or methionine concentrations on newborn mass screening (NMS). To clarify the perinatal and neonatal… (More)
DOI: 10.1203/01.PDR.0000139713.64264.BC

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