Newborn screening for galactosemia: a 30-year single center experience

World Journal of Pediatrics : WJP
Francesco PortaMarco Spada

Abstract

Galactosemia due to complete or near-complete galactose-1-phosphate uridyltransferase (GALT) deficiency was the first disorder added to the pioneering newborn screening panel besides phenylketonuria. In the last 50 years, many criticisms have been focused on the opportunity of its inclusion. Consequently, long-term single center experiences with this issue are generally lacking. We reviewed the outcome of newborn screening for hypergalactosemia performed at our department since 1982 and the correspondent long-term clinical outcome. Among 1 123 909 newborns screened for hypergalactosemia, 33 showed abnormal results confirmed at second tier test. Thirteen patients were affected with classic galactosemia, 8 partial GALT deficiency, 3 severe galactokinase deficiency, 7 transient galactosemia, one congenital porto-systemic shunt, and one glucose transporter 2 deficiency. Acute neonatal liver failure in the late first week of life (5.8±1.1 days) unavoidably complicated the clinical course of classic galactosemia, unless in three second-born siblings treated on the basis of presumptive diagnosis immediately after newborn screening sample collection on day 3. Despite early treatment and long-term steadily normal peripheral blood galact...Continue Reading

References

Mar 19, 1981·Clinica Chimica Acta; International Journal of Clinical Chemistry·H MisumaT Shohmori
Jan 1, 1995·European Journal of Pediatrics·S Schweitzer
Apr 13, 2002·Current Molecular Medicine·R SanterJ Schaub
Aug 10, 2005·Pediatric Neurology·Keith R RidelDonald L Gilbert
Jul 21, 2009·European Journal of Pediatrics·Giovanni Battista FerreroFabrizio Gennari
Nov 12, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kimberly K PowellMarshalyn Yeargin-Allsopp
Dec 3, 2009·Pediatric Research·David J ComanEileen P Treacy
Dec 23, 2009·Pediatrics·Anne Marie Catharina PlassMartina Cornelia Cornel
Oct 28, 2010·Journal of Inherited Metabolic Disease·Judith L Fridovich-KeilEstela Rubio-Gozalbo
Sep 14, 2011·European Journal of Pediatrics·Myung Jin KimWoo Sun Kim
Dec 14, 2011·Archives of Medical Research·Nils JanzenAnibh M Das
Apr 10, 2012·Molecular Genetics and Metabolism·Gerard T Berry
Apr 3, 2013·JIMD Reports·Nancy L PotterLawrence D Shriberg

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Citations

Jul 21, 2015·Hepatology Research : the Official Journal of the Japan Society of Hepatology·Mohamed Abdel-Salam El-GuindiAhmad Mohamed Sira
Feb 27, 2019·Journal of Computer-aided Molecular Design·Xin HuMin Shen
Dec 5, 2019·Frontiers in Microbiology·Ruth AlonsoLuis Carrasco

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