Eileen Treacy
Clinical Professor, Paediatrics

Publications and Further Research Outputs

Peer-Reviewed Publications

Hugh Owen Colhoun, Eileen P Treacy, Marguerite MacMahon, Pauline M Rudd, Maria Fitzgibbon, Roisin O'Flaherty, Karolina M Stepien., Validation of an automated UPLC IgG N-glycan analytical method applicable to Classical Galactosaemia, Annals Express. Annals of Clinical Biochemistry, 2018, p4563218762- Journal Article, 2018

Stepien K, Pastores GM, Hendroff U, McCormick C, Fitzsimons P, Khawaja N, Borovickova I, Treacy EP. , Two uneventful pregnancies in a woman with Glutaric Aciduria Type 1, Journal of Inherited Metabolic Diseases Reports, 2018 Journal Article, 2018

Rubio-Gozalbo ME, Bosch AM, Burlina A, Berry GT and Treacy EP. , The Galactosaemia network (GalNet), Journal of Inherited Metabolic Diseases , 40, (2), 2017, p169 - 170 Journal Article, 2017

Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grunewald S, Gubbels C, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi P, Ounap 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 Galactosaemia: diagnosis, treatment and follow-up. , Journal of Inherited Metabolic Diseases , 40, (2), 2017, p171 - 176 Journal Article, 2017

S. Doyle, M O'Regan, C Stenson, J Bracken, U Hendroff, A Agasarova, Deverell D, Treacy EP. , Extended experience of lower dose Sapropterin in Irish adults with mild Phenylketonuria. , Journal of Inherited Metabolic Diseases Reports, 2017 Journal Article, 2017

Maratha A, Colhoun H, Knerr I, Coss KP, Doran P, Treacy EP ., Classical Galactosaemia and CDG, the N-Glycosylation Interface. a ReviewCongenital Disorders of Glycosylation, the N-Glycan interface., Journal of Inherited Metabolic Diseases Reports, 2017; 34:33-42, 2017 Journal Article, 2017

Welling L, Waisbren SE, Antshel KM. Colhoun HO, Gautschi M, Grunewald S, Holman R, van der Lee JH, Treacy EP, Bosch AM., Systematic review and meta-analysis of intelligence quotient in early-treated individuals with Classical Galactosaemia., Journal of Inherited Metabolic Diseases Reports, 37, 2017, 115 - 123 Journal Article, 2017

Van Erven B, Welling L, van Calcar SC, Doulgeraki A, Eyskens F, Gribben J, Treacy EP, Vos R, Waisbren S, Rubio-Gozalbo ME, Bosch AM., Bone health in classic galactosaemia: systematic review and meta-analysis., Journal of Inherited Metabolic Diseases Reports, (35:87-96. ), 2017 Journal Article, 2017

O'Byrne JJ, Lynch SA, Treacy EP, King MD, Betts DR, Mayne PD, Sharif F, Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations., Irish Journal of medical science, 185, (1), 2016, p241 - 248 Journal Article, 2016 URL

Maratha A, Stockmann H, Coss KP, Rubio-Gozalbo E, Knerr I, Fitzgibbon M, McVeigh T, Foley P, Moss C, Colhoun H, van ERven B, Stephens S, Doran P, Rudd P, Treacy EP, Classical Galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis, Eur J Human Genetics, 2016, pdoi: 10.1038/ejhg.2015.254 Journal Article, 2016

Hollak C, Biegstraaten m, Baumgartner M, Belmatoug N, Bembi B, Bosch A, Brouwers M, vom Dahl S, Dekker H, Engelen M, Groenendiijk M, Lachmann R, Langeveld M Linthorst G, Poll The B, Rubio-Gozalbo E, Speikerkotter U, Treacy Ep, Visser G, Wanders R, Zschocke J, Hangendijk R, Position statement on the role of healthcare professionals, patient organisations and industry in European Reference Networks., Orphanet Journal of Rare Diseases, 11, (1), 2016, p7 - 7 Journal Article, 2016

Knerr I, Coss KP, Kratsch J, Clark A, Shin YS, Stockmann H, Rudd PM, Treacy EP, Effects of temporary low dose galactose supplements in children aged 5-12 with Classical Galactosaemia: a pilot study., Pediatric Research, 78, (3), 2015, p272 - 279 Journal Article, 2015

Stockmann H, Coss KP, Rubio-Gozalbo E, Knerr I, Fitzgibbon M, Wilson JF, Maratha A, Rudd P, Treacy EP, IgG N-glycosylation galactose incorporation ratios for the monitoring of Classical Galactosaemia, JIMD Rep, Sep 30, 2015, pEpub ahead of print Journal Article, 2015

Casey JP, Slattery S, Cotter M, Monavari AA, Knerr I, Hughes J, Treacy EP, Devaney D, McDermott M, Laffan E, Wong D, Lynch SA, Bourke B, Crushell E, Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS., Journal of Inherited metabolic disease, 38, (6), 2015, p1085 - 1092 Journal Article, 2015 DOI

Colhoun H, Maratha A, Kratzsch J, Treacy EP, Knerr I, The leptin system in patients with Classical Galactosaemia-Putative role and clinical consequences, Medical Research Archives, No.4, 2015 Review Article, 2015

Eur J Hum Genet, Epub ahead of print, doi:10.1038/ejhg.226, (2014), G-J B van Ommen, [eds.] Journal, 2014

Shephard EA, Treacy EP, Phillips IR, Clinical Utility Gene Card for Trimethylaminuria-update 2014, European Journal of Human Genetics , 2014 Journal Article, 2014 DOI TARA - Full Text

Casey J, Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria, Eur J Med Genet, 57, (2-3), 2014, p55 - 50 Journal Article, 2014 TARA - Full Text

Coss KP, Hawkes CP, Adamczyk B, Stöckmann H, Crushell E, Saldova R, Knerr I, Rubio-Gozalbo ME, Monavari AA, Rudd PM, Treacy EP, N-glycan abnormalities in children with galactosemia., Journal of proteome research, 13, (2), 2014, p385-94 Journal Article, 2014 DOI

Coss KP, Treacy EP, Cotter EJ, Knerr I, Murray DW, Shin YS, Doran PP, Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism?, Molecular genetics and metabolism, 113, (3), 2014, p177-87 Journal Article, 2014 DOI TARA - Full Text

van Erven B, Gubbels CS, van Golde RJ, Dunselman GA< DErhaag JG, de Wert G, Geraedts JP, Bosch Am, Treacy EP, Welt CK, Berry GT, Rubio-Gozalbo ME, Fertility preservation in female classic galactosemia patients, Orphanet Journal of Rare Diseases, 8, 2013, p107- Journal Article, 2013 DOI TARA - Full Text

Knerr I, Coss KP, Doran PP, Hughes J, Wareham N, Burling K, Treacy EP., Leptin Levels in Children and Adults with Classic Galactosaemia, J. Inherit Metab Dis , 9, 2013, p125 - 131 Journal Article, 2013

Coss KP, Doran PP, Owoeye C, Codd MB, Hamid N, Mayne PD, Crushell E, Knerr I, Monavari AA, Treacy EP. , Classical Galactosaemia in Ireland: Incidence, complications and outcomes of treatment. , J Inher. Metab. Dis. 2013, 36, (1), 2013, p21 - 27 Journal Article, 2013

L Morrissey, C Tiernan, D Lambert, E O'Reilly, EP Treacy. , Hereditary Metabolic Diseases (HMDs) in adult practice in Ireland, a preliminary assessment. , Ir J Med Sci 2013, 8: 107, PMID 23526233, 2013 Journal Article, 2013 DOI

Coss KP, Doran PP, Byrne JC, Adamczyk B, Rudd PM, Treacy EP., 'Classical Galactosaemia- a modifiable glycosylation defect'. , Molec. Genet. Metab , 105, (3), 2012, p290 Review Article, 2012

Coss KP, Doran PP, Byrne JC, Adamcyck B, Rudd PM, Treacy EP , Classical Galactosaemia- a modifiable Glycosylation Disorder? , Ulster Med J, Irish Society of Human Genetics annual meeting, Sept 3rd, 2012. , 81, (3), 2012, pp8 Conference Paper, 2012

Coss KP, Byrne JC, Coman DJ, Adamczyk B, Abrahams JL, Saldova R, Brown AY, Walsh O, Hendroff U, Carolan C, Rudd PM, Treacy EP, IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia., Molecular genetics and metabolism, 105, (2), 2012, p212-20 Journal Article, 2012

Knerr I, Coss KP, Doran P, Hughes J, Treacy EP. , Leptin levels in adults and children with classic Galactosaemia. , J Inherit Metab Dis , (35), 2012, p181 Review Article, 2012

Shephard EA, Treacy EP, Phillips IR, Clinical utility gene card for: trimethylaminuria., European journal of human genetics : EJHG, 20, (3), 2012 Journal Article, 2012

de Ru, M; Teunissen, QJ; van der Lee, JH, ; Beck, M; Bodamer, OA; Clarke, LA; Hollak CE, Lin SP, Muñoz Rojas, MV; Pastores, GM; Raiman, JA; Scarpa, M; Treacy, EP, Tylki-Szymanska, A; Wraith, JE; Zeman, J; Wijburg, FA. , Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure. , Orphanet J Rare Diseases, 2012, 7, (22), 2012 Journal Article, 2012 DOI

J Casey, P McGettigan, A Alkazemie, P Maguire, B Kennedy, D Brosnahan, EP Treacy, K Walsh, SA Lynch. , Exome analysis and cardiomyopathy: The Lazarus story , Ulster Med J, Irish Society of Human Genetics annual meeting, Sept 3rd, 2012. , 81, (3), 2012 Meeting Abstract, 2012

Varghese M, Cafferkey M, O'Regan M, Monavari A, Treacy EP, Is varicella vaccination required for children with Inherited Metabolic Disorders?, Archives of Disease in Childhood, 96, 2011, p99-100 Journal Article, 2011

Burton BK, Whiteman DA, Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a perspective from the Hunter Outcome Survey (HOS)., Molecular genetics and metabolism, 103, (2), 2011, p113-20 Journal Article, 2011

Hendroff U, Coss KP, Coman DJ, Brown A, Walsh O, Rudd PM, Treacy EP. , 'Effects of diet relaxation in Classical Galactososaemia'. , Metabolics Update. Nutricia, 'Best Practice', 25th SHS Dietary Management of Inherited Metabolic Disorders Conference, 7th-8th April, 2011. , Winter 2011 Edition, 2011 Conference Paper, 2011

Brown RM, Treacy EP, Fernandez -Vizarra E, Poulton J, Brown GK. , Reversible mitochondrial liver disease with TRMU mutations, J Inherit Metab Dis , 34 (suppl 3), S166, 2011 Review Article, 2011

Knerr I, Crushell E, Kozdoba O, Mayne PD, Deverell D, Monavari AA, Treacy EP. , Assessment of biochemical profiles during metabolic decompensation in 14 patients with Maple Syrup Urine Disease (MSUD). , J Inherit Metab Dis , 34 (suppl 3), S80, 2011 Review Article, 2011

O'Shea R, Murphy AM, Treacy E, Lynch SA, Thirlaway K, Lambert D, Communication of genetic information by other health professionals: the role of the genetic counsellor in specialist clinics., Journal of genetic counseling, 20, (2), 2011, p192-203 Journal Article, 2011 DOI

O'Sullivan S, Treacy EP, Crushell E, Monavari A, Brinkley A, Grant T, Mayne PD. , Long term outcomes of patients with treated Homocystinuria (CBC deficiency) in Ireland (1971-2009). , J Inherit Metab Dis , (34 (suppl 3) S77 ), 2011 Review Article, 2011

Brown RM, Treacy EP, Fernandez -Vizarra E, Poulton J, Brown GK. , Reversible mitochondrial liver disease with TRMU mutations, J Inherit Metab Dis , 34 (suppl 3), S166, 2011 Review Article, 2011

Moran MM, Allen NM, Treacy EP, King MD, "Stiff neonate" with mitochondrial DNA depletion and secondary neurotransmitter defects., Pediatric neurology, 45, (6), 2011, p403-5 Journal Article, 2011

Uusimaa J, Jungbluth H, Fratter C, Crisponi G, Feng L, Zeviani M, Hughes I, Treacy EP, Birks J, Brown GK, Sewry CA, McDermott M, Muntoni F, Poulton J, Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease., Journal of medical genetics, 48, (10), 2011, p660-8 Journal Article, 2011

Coman D, Murray D, Byrne J, Baglaglia P, Rudd P, Treacy EP, Epigenetic effects in Galactosaemia, Pediatric Research, 67, (3), 2010 Journal Article, 2010

Burton BK, Guffon N, Roberts J, van der Ploeg AT, Jones SA, Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey., Molecular genetics and metabolism, 101, (2-3), 2010, p123-9 Journal Article, 2010

Ellen Crushell, Eileen P. Treacy, J. Dawe, M. Durkie and Nicholas J. Beauchamp, Glycogen storage disease type III: Genotype-phenotype correlations in the Irish population, Journal of Inherited Metabolic Disease, 33, 2010 Journal Article, 2010 DOI

Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R, Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey., Genetics in medicine : official journal of the American College of Medical Genetics, 12, (12), 2010, p816-22 Journal Article, 2010

Coman DJ, Murray DW, Byrne JC, Rudd PM, Bagaglia PM, Doran PD, Treacy EP, Galactosemia, a single gene disorder with epigenetic consequences., Pediatric Research, 67, (3), 2010, p286-292 Journal Article, 2010 DOI

Salter N, Quin G, Treacy EP, ABCS -Child's Play? , Emergency Medical Journal, 27, 2010, p720-721 Journal Article, 2010

Crushell E, Chuku J, Mayne PD, Blatny J, Treacy EP, Negative screening tests in classic Galactosaemia caused by S135L homozygozity, Journal of Inherited Metabolic Disease, 32, (3), 2009, p412-415 Journal Article, 2009

Murphy AM, Lambert D, Treacy EP, O'Meara A, Lynch SA, Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic., Archives of Disease in Childhood, 94, (1), 2009, p52-54 Journal Article, 2009 DOI

Hughes J, Ryan S, Lambert D, Geoghegan O, Clark A, Rogers Y, Hendroff U, Monavari A, Twomey E, Treacy EP, Outcomes of siblings with classical galactosemia., The Journal of Pediatrics, 154, (5), 2009, p721-726 Journal Article, 2009 DOI

Harty S, King MD, McCoy B, Costigan D, Treacy EP, Sensory-motor polyneuropathy occurring in variant maple syrup urine disease., Journal of Inherited Metabolic Disease, 2008 Journal Article, 2008 DOI

Lee P, Treacy EP, Crombez E, Wasserstein M, Waber L, Wolff J, Wendel U, Dorenbaum A, Bebchuk J, Christ-Schmidt H, Seashore M, Giovannini M, Burton BK, Morris AA, Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria., American Journal of Medical Genetics. Part A, 146A, (22), 2008, p2851-9 Journal Article, 2008 DOI

Tuppen HA, Fattori F, Carrozzo R, Zeviani M, DiMauro S, Seneca S, Martindale JE, Olpin SE, Treacy EP, McFarland R, Santorelli FM, Taylor RW, Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations., Journal of Medical Genetics, 45, (1), 2008, p55-61 Journal Article, 2008 DOI

Low E, Crushell EB, Harty SB, Ryan SP, Treacy EP, Reversible multiorgan system involvement in a neonate with complex IV deficiency., Pediatric Neurology, 39, (5), 2008, p368-70 Journal Article, 2008 DOI

Research Expertise


  • Title
    • Galactosaeamia, translating novel monitoring approaches into improved clinical practice
  • Funding Agency
    • HRB HRA -POR-2014
  • Date From
    • 1/12/2014
  • Date To
    • 31/11/2017
  • Title
    • Ec 3rd Public Health Programme, Joint Action in Rare Diseases
  • Summary
    • HSE Coordinator
  • Funding Agency
    • EC
  • Date From
    • 1 June 2015
  • Date To
    • 31 May 2018