Galactosaemia − Should it be screened in newborns?

1Berry GT. Classic Galactosemia and Clinical Variant Galactosemia.In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2018. 2000 Feb 4 [updated 2017 Mar 9]. Berry GT Classic Galactosemia and Clinical Variant Galactosemia In Adam MP Ardinger HH Pagon RA Wallace SE Bean LJH Stephens K Amemiya A editors GeneReviews® Seattle (WA) University of Washington, Seattle 1993 2018 2000 Feb 4 [updated 2017 Mar 9]Search in Google Scholar

2Beutler F, Baluda M. A simple spot screening test for galactosemia. J Lab Clin Med. 1966;137-141. Beutler F Baluda M A simple spot screening test for galactosemia J Lab Clin Med 1966137 141Search in Google Scholar

3Clouds over galactosaemia.[No authors listed] Lancet. 1982 Dec 18;2(8312):1379-1380. Clouds over galactosaemia.[No authors listed] Lancet 1982 Dec 18283121379 138010.1016/S0140-6736(82)91278-8Search in Google Scholar

4Kaufman FR, Kogut MD, Donnell GN, Goebelsmann U, March C, Koch R. Hypergonadotropic hypogonadism in female patients with galactosemia. N Engl J Med. 1981;304:994–998. Kaufman FR Kogut MD Donnell GN Goebelsmann U March C Koch R Hypergonadotropic hypogonadism in female patients with galactosemia N Engl J Med 1981304994 99810.1056/NEJM198104233041702Search in Google Scholar

5Schweitzer S, Shin Y, Jakobs C, Brodehl J. Long-term outcome in 134 patients with galactosaemia. Eur J Pediatr. 1993;152:36-43. Schweitzer S Shin Y Jakobs C Brodehl J Long-term outcome in 134 patients with galactosaemia Eur J Pediatr 199315236 4310.1007/BF02072514Search in Google Scholar

6Kaufman FR, Reichardt JK, Ng WG, Xu YK, Manis FR, McBride-Chang C, et al. Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene. J Pediatr. 1994;125:225–227. Kaufman FR Reichardt JK Ng WG Xu YK Manis FR McBride-Chang C et al Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene J Pediatr 1994125225 22710.1016/S0022-3476(94)70197-0Search in Google Scholar

7Bosch AM, Grootenhuis MA, Bakker HD, Heijmans HSA, Wijburg FA, Last BF. Living with classical galactosemia: health-related quality of life consequences. Pediatrics 2004;113:e423-8. 56. Bosch AM Grootenhuis MA Bakker HD Heijmans HSA Wijburg FA Last BF Living with classical galactosemia: health-related quality of life consequences Pediatrics 2004113e423 8 5610.1542/peds.113.5.e42315121984Search in Google Scholar

8Waisbren SE, Potter NL, Gordon CM, Green RC, Greenstein P, Gubbels CS, et al. The adult galactosemic phenotype. J Inherit Metab Dis. 2012;35:279-286. Waisbren SE Potter NL Gordon CM Green RC Greenstein P Gubbels CS et al The adult galactosemic phenotype J Inherit Metab Dis 201235279 28610.1007/s10545-011-9372-y364177121779791Search in Google Scholar

9Coss KP, Doran PP, Owoeye C, et al. Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment. J Inherit Metab Dis. 2013;36:21-27. Coss KP Doran PP Owoeye C et al Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment J Inherit Metab Dis 20133621 2710.1007/s10545-012-9507-922870861Search in Google Scholar

10Berry GT, Moate PJ, Reynolds RA, et al. The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency. Mol Genet Metab. 2004 Jan;81(1):22-30. Berry GT Moate PJ Reynolds RA et al The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency Mol Genet Metab 2004 Jan81122 3010.1016/j.ymgme.2003.08.02614728988Search in Google Scholar

11Wilson JMG, Jungner G. Principles and practice of screening for disease. Geneva: World Health Organization; 1968. Wilson JMG Jungner G Principles and practice of screening for disease Geneva World Health Organization; 1968Search in Google Scholar

12Pyhtila BM, Shaw KA, Neumann SE, Fridovich-Keil JL. Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead JIMD Rep. 2015; 15:79-93. Pyhtila BM Shaw KA Neumann SE Fridovich-Keil JL Newborn Screening for Galactosemia in the United States: Looking Back Looking Around, and Looking Ahead JIMD Rep 2015 1579 9310.1007/8904_2014_302441301524718839Search in Google Scholar

13Welling L, Boelen A, Derks TG et al. Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes. Mol Genet Metab. 2017 Mar;120(3):223-228. Welling L Boelen A Derks TG et al Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes Mol Genet Metab 2017 Mar1203223 22810.1016/j.ymgme.2016.12.01228065439Search in Google Scholar

14Hewlett J, Waisbren SE. A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening. J Inherit Metab Dis 2006;29:677-682. 11. Hewlett J Waisbren SE A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening J Inherit Metab Dis 200629677 682 1110.1007/s10545-006-0381-1Search in Google Scholar

15Ohlsson A, Guthenberg C, von Döbeln U. Galactosemia screening with low false-positive recall rate: the Swedish experience. JIMD Rep. 2012;2:113-117. Ohlsson A Guthenberg C von Döbeln U. Galactosemia screening with low false-positive recall rate: the Swedish experience JIMD Rep 20122113 11710.1007/8904_2011_59Search in Google Scholar

16Welling L, Bernstein LE, Berry GT et al. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J Inherit Metab Dis. 2017;40(2):171-176. Welling L Bernstein LE Berry GT et al International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up J Inherit Metab Dis 2017402171 17610.1007/s10545-016-9990-5530641927858262Search in Google Scholar

17Schweitzer-Krantz S. Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosemia. Eur J Pediatr. 2003;162:S50-S53. Schweitzer-Krantz S. Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosemia Eur J Pediatr 2003162S50 S5310.1007/s00431-003-1352-2Search in Google Scholar

18Hughes J, Ryan S, Lambert D, et al (2009) Outcomes of siblings with classical galactosemia. J Pediatr. 154:721726. Hughes J Ryan S Lambert D et al 2009 Outcomes of siblings with classical galactosemia J Pediatr 15472172610.1016/j.jpeds.2008.11.052Search in Google Scholar

19Padilla CD, Dans LF, Estrada SC, Tamondong MR Jr, Laceste JJ, Bernal RM. Cost-benefit analysis of newborn screening for galactosemia in the Philippines. Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:215-220. Padilla CD Dans LF Estrada SC Tamondong MR Jr Laceste JJ Bernal RM. Cost-benefit analysis of newborn screening for galactosemia in the Philippines Southeast Asian J Trop Med Public Health 2003 34 Suppl 3215 220Search in Google Scholar

20Camelo JS Jr, Fernandes MI, Maciel LM, et al. Galactosaemia in a Brazilian population: high incidence and cost-benefit analysis. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S141-149. Camelo JS Jr Fernandes MI Maciel LM et al Galactosaemia in a Brazilian population: high incidence and cost-benefit analysis J Inherit Metab Dis 2009 Dec;32 Suppl 1S141 14910.1007/s10545-009-1112-1Search in Google Scholar

21Hatam N, Askarian M, Shirvani S, Siavashi E. Neonatal Screening: Cost-utility Analysis for Galactosemia. Iran J Public Health. 2017 Jan;46(1):112-119. Hatam N Askarian M Shirvani S Siavashi E Neonatal Screening: Cost-utility Analysis for Galactosemia Iran J Public Health 2017 Jan461112 119Search in Google Scholar

22Varela-Lema L, Paz-Valinas L, Atienza-Merino G, Zubizarreta-Alberdi R, Villares RV, López-García M. Appropriateness of newborn screening for classic galactosaemia: a systematic review. J Inherit Metab Dis 2016;1-17. Varela-Lema L Paz-Valinas L Atienza-Merino G Zubizarreta-Alberdi R Villares RV López-García M. Appropriateness of newborn screening for classic galactosaemia: a systematic review J Inherit Metab Dis 20161 1710.1007/s10545-016-9936-ySearch in Google Scholar

23Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R. Newborn screening for galactosaemia. Cochrane Database Syst Rev. 2017 Dec 23;12:CD012272. Lak R Yazdizadeh B Davari M Nouhi M Kelishadi R Newborn screening for galactosaemia Cochrane Database Syst Rev 2017 Dec 2312CD01227210.1002/14651858.CD012272.pub2Search in Google Scholar

1Bożkowa K et al. Neonatal screening, Clinical and Biochemical Aspects. Bioch Med. 1977;17:24-30. Bożkowa K et al Neonatal screening, Clinical and Biochemical Aspects Bioch Med 19771724 3010.1016/0006-2944(77)90006-0Search in Google Scholar

2Bożkowa K, Cabalska B, Radomyska B, Ołtarzewski M, Lenartowska I. Ocena przydatności badań przesiewowych u noworodków w świetle 35 lat doświadczeń własnych. Medycyna Wieku Rozwojowego 1999;III, 4:529-559. Bożkowa K Cabalska B Radomyska B Ołtarzewski M Lenartowska I. Ocena przydatności badań przesiewowych u noworodków w świetle 35 lat doświadczeń własnych Medycyna Wieku Rozwojowego 1999III 4529 559Search in Google Scholar

3Chojnacki T, Sawicka T. Nowa metoda izotopowa w diagnostyce galaktozemii. Pol Tyg Lek. 1969;XXIV:625. Chojnacki T Sawicka T Nowa metoda izotopowa w diagnostyce galaktozemii Pol Tyg Lek 1969XXIV625Search in Google Scholar

4Grodzka Z, Zbieg-Sendecka E, Cabalska B. Wczesna diagnostyka galaktozemii. Ped Pol. 1979;LIV, 5. Grodzka Z Zbieg-Sendecka E Cabalska B Wczesna diagnostyka galaktozemii Ped Pol 1979LIV 5Search in Google Scholar

5Bożkowa K, Cabalska B, Duczyńska N, Grodzka Z, Sendecka E, Nowakowska A, Lenartowska I, Kasperska-Dworak A, Helwich E. Postępy we wczesnym rozpoznawaniu genetycznie uwarunkowanych zaburzeń metabolicznych. Problemy Medycyny Wieku Rozwojowego 1980;10:69-85. Bożkowa K Cabalska B Duczyńska N Grodzka Z Sendecka E Nowakowska A Lenartowska I Kasperska-Dworak A Helwich E Postępy we wczesnym rozpoznawaniu genetycznie uwarunkowanych zaburzeń metabolicznych Problemy Medycyny Wieku Rozwojowego 19801069 85Search in Google Scholar

6Radomyska B, Mańkowski T. Ocena odległych wyników leczenia galaktozemii. Ped Pol. 1994;5:345. Radomyska B Mańkowski T Ocena odległych wyników leczenia galaktozemii Ped Pol 19945345Search in Google Scholar

7Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J Inherit Metab Dis. 2017;40(2):171-176. Welling L Bernstein LE Berry GT Burlina AB Eyskens F Gautschi M Grünewald S Gubbels CS Knerr I Labrune P van der Lee JH MacDonald A Murphy E Portnoi PA Õunap K Potter NL Rubio-Gozalbo ME Spencer JB Timmers I Treacy EP Van Calcar SC Waisbren SE Bosch AM International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up J Inherit Metab Dis 2017402171 17610.1007/s10545-016-9990-5Search in Google Scholar