caa a22 4500 475787277 CHVBK 20180406123702.0 cr unu---uuuuu 170329e20001001xx s 000 0 eng 10.1007/PL00008352 doi (NATIONALLICENCE)springer-10.1007/PL00008352 Galactose metabolites in blood from neonates with and without hypergalactosaemia detected by mass screening [Elektronische Daten] [Nobuyuki Mizoguchi, Hiroaki Ono, Takaatsu Eguchi, Nobuo Sakura] Concentrations of galactose (Gal) in plasma and galactose metabolites in red blood cells (RBC) were determined in 18 normal neonates and 249 others with hypergalactosaemia according to the Paigen method. Normal neonatal values for plasma Gal, RBC galactose-1-phosphate (Gal-1-P), RBC uridine diphosphate glucose (UDP-Glc), and RBC uridine diphosphate galactose (UDP-Gal) were 0.96 ± 0.71 mg/dl, 1.69 ± 1.45 mg/dl of packed RBC, 1.00 ± 0.45 mg/dl of packed RBC, and 1.44 ± 0.45 mg/dl of packed RBC, respectively. The UDP-Gal concentration was higher and the UDP-Glc concentration lower than previously reported in normal children. Of the 249 cases with excessive Gal in whole blood, 23 showed high Gal concentrations in plasma; among these, four portacaval shunts and one case of congenital biliary atresia were diagnosed. In subjects homozygous or heterozygous for UDP-Gal-4 epimerase deficiency, concentrations of UDP-Gal and Gal-1-P were elevated only in RBC, corresponding to restriction of the metabolic abnormality to these cells. Most cases of hypergalactosaemia detected by the Paigen method have large excesses of Gal-1-P in RBC. Although a specific diagnosis based solely on blood Gal metabolites is difficult, individual concentrations reflect underlying conditions to some extent. Conclusion In neonates, uridine diphosphate galactose concentrations were higher and uridine diphosphate glucose concentrations were lower than previously reported paediatric values. Patients with high plasma galactose concentrations should be investigated by hepatic imaging. Springer-Verlag Berlin Heidelberg, 2000 Key words Galactosaemia nationallicence Galactose metabolites nationallicence Mass screening nationallicence Neonate nationallicence AbbreviationsGal galactose nationallicence GALE uridine diphosphate galactose-4 epimerase nationallicence Gal-1-P galactose-1-phosphate nationallicence GALT galactose-1-phosphate uridyltransferase nationallicence RBC red blood cells nationallicence UDP-Gal uridine diphosphate galactose nationallicence UDP-Glc uridine diphosphate glucose nationallicence Mizoguchi Nobuyuki Department of Paediatrics, Hiroshima University, Faculty of Medicine, 1-2-3, Kasumi, Minami-ku, Hiroshima, 734-8551, Japan e-mail: no-mizo@sj8.so-net.ne.jp Tel.: +81-82-2575212, Fax: +81-82-2575214, JP aut Ono Hiroaki Department of Paediatrics, Hiroshima University, Faculty of Medicine, 1-2-3, Kasumi, Minami-ku, Hiroshima, 734-8551, Japan e-mail: no-mizo@sj8.so-net.ne.jp Tel.: +81-82-2575212, Fax: +81-82-2575214, JP aut Eguchi Takaatsu Department of Paediatrics, Hiroshima University, Faculty of Medicine, 1-2-3, Kasumi, Minami-ku, Hiroshima, 734-8551, Japan e-mail: no-mizo@sj8.so-net.ne.jp Tel.: +81-82-2575212, Fax: +81-82-2575214, JP aut Sakura Nobuo Department of Paediatrics, Hiroshima University, Faculty of Medicine, 1-2-3, Kasumi, Minami-ku, Hiroshima, 734-8551, Japan e-mail: no-mizo@sj8.so-net.ne.jp Tel.: +81-82-2575212, Fax: +81-82-2575214, JP aut https://doi.org/10.1007/PL00008352 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00008352 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Mizoguchi Nobuyuki Department of Paediatrics, Hiroshima University, Faculty of Medicine, 1-2-3, Kasumi, Minami-ku, Hiroshima, 734-8551, Japan e-mail: no-mizo@sj8.so-net.ne.jp Tel.: +81-82-2575212, Fax: +81-82-2575214, JP aut NATIONALLICENCE 700 1- Ono Hiroaki Department of Paediatrics, Hiroshima University, Faculty of Medicine, 1-2-3, Kasumi, Minami-ku, Hiroshima, 734-8551, Japan e-mail: no-mizo@sj8.so-net.ne.jp Tel.: +81-82-2575212, Fax: +81-82-2575214, JP aut NATIONALLICENCE 700 1- Eguchi Takaatsu Department of Paediatrics, Hiroshima University, Faculty of Medicine, 1-2-3, Kasumi, Minami-ku, Hiroshima, 734-8551, Japan e-mail: no-mizo@sj8.so-net.ne.jp Tel.: +81-82-2575212, Fax: +81-82-2575214, JP aut NATIONALLICENCE 700 1- Sakura Nobuo Department of Paediatrics, Hiroshima University, Faculty of Medicine, 1-2-3, Kasumi, Minami-ku, Hiroshima, 734-8551, Japan e-mail: no-mizo@sj8.so-net.ne.jp Tel.: +81-82-2575212, Fax: +81-82-2575214, JP aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer