Article
Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.
Journal of inherited metabolic disease - 1 Nov 2024
Kido Jun, Häberle Johannes, Tanaka Toju, Nagao Masayoshi, Wada Yoichi, Numakura Chikahiko, Bo Ryosuke, Nyuzuki Hiromi, Dateki Sumito, Maruyama Shinsuke, Murayama Kei, Yoshida Shinichiro, Nakamura Kimitoshi
Abstract excerpt
Citrin deficiency is an autosomal recessive disorder caused by a defect of citrin resulting from mutations in the SLC25A13 gene. Intrahepatic cholestasis and various metabolic abnormalities, including hypoglycemia, galactosemia, citrullinemia, and hyperammonemia may be present in neonates or infants in the "neonatal intrahepatic cholestasis caused by citrin deficiency" (NICCD) form of the disease. Because at...
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