Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.
Kido J, Häberle J, Tanaka T, Nagao M, Wada Y, Numakura C, Bo R, Nyuzuki H, Dateki S, Maruyama S, Murayama K, Yoshida S, Nakamura K.
Kido J, et al.
J Inherit Metab Dis. 2023 Sep 8. doi: 10.1002/jimd.12673. Online ahead of print.
J Inherit Metab Dis. 2023.
PMID: 37681292
Hereby, we identified the combined evaluation of arginine (Arg), citrulline (Cit), isoleucine+leucine (Ile + Leu), tyrosine (Tyr), free carnitine (C0) / glutarylcarnitine (C5-DC) ratio in DBS as potentially sensitive to diagnose citrin deficiency in pre-symptomatic newborn …
Hereby, we identified the combined evaluation of arginine (Arg), citrulline (Cit), isoleucine+leucine (Ile + Leu), tyrosine (Tyr), free carn …