Article
Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots.
Molecular genetics and metabolism - 1 Jun 2026
Kido Jun, Nakashima Hiromasa, Häberle Johannes, Nozaki Fumiko, Yano Naomi, Sugawara Keishin, Hasegawa Masanari, Wada Yoichi, Numakura Chikahiko, Shimura Masaru, Sasai Hideo, Kaji Shunsaku, Mushimoto Yuichi, Anan Kotaro, Nakamura Kimitoshi
Abstract excerpt
BACKGROUND: Citrin deficiency is an autosomal recessive metabolic disorder caused by pathogenic variants in SLC25A13, which manifests as an age-dependent spectrum ranging from neonatal intrahepatic cholestasis (NICCD) to adolescent and adult citrin deficiency (AACD, formerly CTLN2). Early detection through newborn screening (NBS) would be a prerequisite for early treatment, but conventional NBS based on...
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