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Professor Eileen Treacy
Clinical Professor, Paediatrics


Prof. Eileen Treacy is currently the Director of the Irish National Rare Diseases Office and Adult Metabolic Consultant at The National Centre for Inherited Metabolic Disorders-Adult Services, Mater Misericordiae University Hospital. Currently registered in Clinical Genetics and Paediatrics on the Medical Council Specialist Registry and RCPI Clinical Genetics Programme trainer. Appointed as a Clinical Professor of Inborn Errors of Metabolism (Paediatrics) at University of Dublin in 2006 and was appointed as Clinical Professor at University College, Dublin in 2014 and Full Clinical Professor in 2016.

Graduated in medicine from Trinity College, Dublin. Trained in Paediatrics and then Clinical and Biochemical Genetics (FCCMG programme), at McGill University, Montreal, Canada, and then obtained a two year Canadian Samuel McLoughlin Travelling Fellowship scholarship with further training in Biochemical Genetics at the Murdoch Institute, Royal Childrens' Hospital, Melbourne, Australia and Necker Enfants Malades Hospital, Paris. Appointed, first as Assistant Professor and then promoted to Associate Professor in Paediatrics and Human Genetics at Montreal Children's Hospital, McGill University, Montreal, Canada (1994 to 2001) and was Director of the Charles Scriver Biochemical Genetics Unit at Montreal Children's Hospital/McGill University from 1995 to 2001. Specific research interests are in the diagnosis and treatment of rare and genetic diseases and metabolic diseases. Currently Co-Lead of the European Galactosaemia Clinical and Research Network. Principal Investigator (HSE) and Country Coordinator for the ongoing EC Orphanet ONW grant, Orphanet national validator and country Principal Investigator for Pillar II European Joint Programme in Rare Diseases. National European Joint Programme in Rare Diseases General Assembly national representative. National representative to EC European Reference Networks Board of Member States.

Publications and Further Research Outputs

Peer-Reviewed Publications

Byrne N, Turner J, Marron R, Lambert DM, Murphy DN, O'Sullivan G, Mason M, Broderick F, Burke MC, Casey S, Doyle M, Gibney D, Mason F, Molony D, Ormond D, O' Sé C, O'Shea C, Treacy EP., The role of primary care in management of rare diseases in Ireland., Ir J Med Sci, 2020 Journal Article, 2020 DOI

Welsink-Karssies MM, van Weeghel M, Hollak CEM, Elfrink HL, Janssen MCH, Lai K, Langendonk JG, Oussoren E, Ruiter JPN, Treacy EP, de Vries M, Ferdinandusse S, Bosch AM., The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes., Molecular genetics and metabolism, 2020 Journal Article, 2020 DOI

Welsink-Karssies, M M, Ferdinandusse,S, Geurtsen Gj, Hollak C, Huidekoper H, Janssen MCH, Gangendonk J, van der Lee J, O'Flaherty R, Oostrom K, Roosendaal SD, Rubio-Gozalbo M, Saldova R, Treacy EP et al., Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers, Brain Communications , 2020 Journal Article, 2020

Stepien KM, Geberhiwot T, Hendriksz CJ, Treacy EP., Challenges in diagnosing and managing adult patients with urea cycle disorders., Journal of inherited metabolic disease, 42, (6), 2019, p1136 - 1146 Journal Article, 2019 DOI

Knerr I, Colombo R, Urquhart J, Morais A, Merinero B, Oyarzabal A, Pérez B, Jones SA, Perveen R, Preece MA, Rogers Y, Treacy EP, Mayne P, Zampino G, MacKinnon S, Wassmer E, Yue WW, Robinson I, Rodríguez-Pombo P, Olpin SE, Banka S., Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency., Journal of Inherited metabolic disease, 42, (5), 2019, p809 - 817 Journal Article, 2019 DOI

Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT., The natural history of classic galactosemia: lessons from the GalNet registry., Orphanet journal of rare diseases, 14, (1), 2019, p86 Journal Article, 2019 DOI

Anne Clark; Christine Merrrigan; Ellen Crushell; Joanne Hughes; Ina Knerr; Ardeshir Monavari; Eileen Treacy; Aoife Coughlan., 10 Year Retrospective Review (2003-2013) of 56 Inpatient Admissions to Stabilise Elevated Phenylalanine Levels, Journal Of Inherited Metabolic Diseases Reports, 2019 Journal Article, 2019

Stepien KM, Schmidt WM, Bittner RE, O'Toole O, McNamara B, Treacy EP., Long-term outcomes in a 25-year-old female affected with lipin-1 deficiency., JIMD reports, 46, (1), 2019, p4-10 Journal Article, 2019 DOI

Stepien KM, Schmidt WM, Bittner R, Treacy EP, Peripheral neuropathy as a complication of rhabdomyolysis in a 25 year old female with Lipin-1 deficiency, Journal Of Inherited Metabolic Diseases Reports, 2019 Journal Article, 2019

Doyle S, O'Byrne JJ, Nesbitt M, Murphy DN, Abidin Z Byrne N, Pastores G, Kirk R, Treacy EP, The genetic and biochemical basis of Trimethylaminuria in an Irish cohort, Journal of Inherited Metabolic Diseases Reports, 47, (1), 2019, p35 - 40 Journal Article, 2019

Abidin Z and Treacy EP, Insights into the Pathophysiology of Infertility in Females with Classical Galactosae,ia, International Journal of Molecular Science, 20, (20), 2019, pdoi. 10.3- Journal Article, 2019

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, 55, (5), 2018, p593 - 603 Journal Article, 2018

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, 40, 2018, p71 - 76 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, (41), 2018, p29 - 36 Journal Article, 2018

Stepien KM, McCarthy P, Treacy EP, O'Byrne JJ, Pastores GM, Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyrl-CpA dehydrogenase deficiency, Molecular Genetics and Metabolism, 16, 2018, p31 - 35 Journal Article, 2018

Colhoun HO, Rubio-Gozalbo EM, Bosch Am, Knerr I, Dawson C, Brady J, Galligan M, Stepein K, O'Flaherty R, Moss C, Barker P, Fitzgibbon M, Doran PP, Fertility in classical galactosaemia, a study of N-Glycan, hormonal and inflammatory gene interactions, Orphanet Journal of Rare Diseases, 13, (1), 2018, p164- Journal Article, 2018

van Weeghel M, Welling L, Treacy EP, Wanders RJA, Ferdinandusse F, Bosch AM., Profiling of intracellular metabolites produced from galactose and its potential for galactosaemia research, Orphanet Journal of Rare Diseases, 13, (1), 2018, p146- 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

Maratha A, Colhoun HO, Knerr I, Coss KP, Doran P, Treacy EP., Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review., JIMD reports, 34, 2017, p33-42 Journal Article, 2017 DOI

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

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

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

Rubio-Gozalbo ME, Bosch AM, Burlina A, Berry GT, Treacy EP, Steering Committee on behalf of all Galactosemia Network representatives., The galactosemia network (GalNet)., Journal of inherited metabolic disease, 40, (2), 2017, p169-170 Journal Article, 2017 DOI

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

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

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

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

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

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 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

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

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

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

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

Cohn GM, Morin I, Whiteman DA, Hunter Outcome Survey Investigators., Development of a mnemonic screening tool for identifying subjects with Hunter syndrome., European journal of pediatrics, 172, (7), 2013, p965-970 Journal Article, 2013 DOI

Hendriksz CJ, Giugliani R, Harmatz P, Lampe C, Martins AM, Pastores GM, Steiner RD, Leão Teles E, Valayannopoulos V, CSP Study Group., Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)., Journal of inherited metabolic disease, 36, (2), 2013, p373-384 Journal Article, 2013 DOI

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

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 TARA - Full Text DOI

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, 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

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

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

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

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

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

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

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

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

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

Varghese M, Cafferkey M, O'Regan M, Monavari AA, Treacy EP., Should children with inherited metabolic disorders receive varicella vaccination?, Archives of disease in childhood, 96, (1), 2011, p99-100 Journal Article, 2011 DOI

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

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

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

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

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

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, Quinn G, Treacy E, Cardiac arrest in infancy: don't forget glucose! , Emergency Medicine Jourmal, 27, 2010, p720 - 721 Journal Article, 2010

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

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

The treatment of Genetic Disese, Update of Chapter 5 in, editor(s)Scriver CR, Beaudet A, Valle D, Vogelstein B and Childs , The Metabolic and Molecular Bases of Inherited Disease, on line edition , McGraw Hill, New York,, McGraw Hill, 2008, ppOnline - Online, [Eileen P Treacy] Book Chapter, 2008

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

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

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

Trimethylaminuria and deficiency of flavin-containing monooxygenase. Chapter 88.1 in, The Metabolic and Molecular Bases of Inherited Disease, on line edition , McGraw Hill, New York,, McGraw Hill, 2007, ppOnline - Online, [Eileen Treacy, First author] Book Chapter, 2007

Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S, Sharrard M., Glycogen storage disease type IX: High variability in clinical phenotype., Molecular genetics and metabolism, 92, (1-2), 2007, p88-99 Journal Article, 2007 DOI

Hayes B, Lynch B, O'Keefe M, Monavari AA, Treacy EP., Long chain fatty acid oxidation defects in children: importance of detection and treatment options., Ir J Med Sci, 176, (3), 2007, p189-192 Journal Article, 2007 DOI

Ryan E, King MD, Rustin P, Mayne PD, Brown GK, Monavari AA, Walsh R, Treacy EP., Mitochondrial cytopathies, phenotypic heterogeneity and a high incidence., Irish medical journal, 99, (9), 2006, p262-264 Journal Article, 2006 DOI

Dolan C, Shields DC, Stanton A, O'Brien E, Lambert DM, O'Brien JK, Treacy EP., Polymorphisms of the Flavin containing monooxygenase 3 (FMO3) gene do not predispose to essential hypertension in Caucasians., BMC medical genetics, 6, 2005, p41 Journal Article, 2005 DOI

Rohininath T, Costello DJ, Lynch T, Monavari A, Tuchman M, Treacy EP., Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies., Journal of inherited metabolic disease, 27, (2), 2004, p285-288 Journal Article, 2004 DOI

Crow YJ, McMenamin J, Haenggeli CA, Hadley DM, Tirupathi S, Treacy EP, Zuberi SM, Browne BH< Tolmie JL, Stephenson JB, Coat's plus: a progressive familial syndrome, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument, Neuropediatrics, 35, (1), 2004, p10 - 19 Journal Article, 2004

Kurian MA, O'Mahoney ES, Rustin P, Brown G, Treacy EP, King MD, Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency, European Journal of Paediatric Neurology , 8, (1), 2004, p55 - 59 Journal Article, 2004

Tighe O, Dunican D, O'Neill C, Bertorelle G, Beattie D, Graham C, Zschocke J, Cali F, Romano V, Hrabincova E, Kozak L, Nechyporenko M, Livshits L, Guldberg P, Jurkowska M, Zekanowski C, Perez B, Desviat LR, Ugarte M, Kucinskas V, Knappskog P, Treacy E, Naughten E, Tyfield L, Byck S, Scriver CR, Mayne PD, Croke DT., Genetic diversity within the R408W phenylketonuria mutation lineages in Europe., Human mutation, 21, (4), 2003, p387-393 Journal Article, 2003 DOI

Treacy EP, Lee-Chong A, Roche G, Lynch B, Ryan S, Goodman S., Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype., Journal of inherited metabolic disease, 26, (1), 2003, p72-74 Journal Article, 2003 DOI

Forrest SM, Knight M, Akerman BR, Cashman JR, Treacy EP., A novel deletion in the flavin-containing monooxygenase gene (FMO3) in a Greek patient with trimethylaminuria., Pharmacogenetics, 11, (2), 2001, p169-174 Journal Article, 2001 DOI

Bissonnette R, Treacy E, Rozen R, Boucher B, Cohn JS, Genest J., Fenofibrate raises plasma homocysteine levels in the fasted and fed states., Atherosclerosis, 155, (2), 2001, p455-462 Journal Article, 2001 DOI

The Treatment of Genetic Disease, Chapter 5 in, editor(s)Eds. Scriver CR, Beaudet A, Valle D, Vogelstein B and Childs B. , The Metabolic and Molecular Bases of Inherited Disease, 8th edition, 2001. , McGraw Hill, New York,, McGraw Hill, 2001, pp173 - 193, [Eileen P Treacy, Valle D, Scriver CR] Book Chapter, 2001

Lambert DM, Mamer OA, Akerman BR, Choinière L, Gaudet D, Hamet P, Treacy EP., In vivo variability of TMA oxidation is partially mediated by polymorphisms of the FMO3 gene., Molecular genetics and metabolism, 73, (3), 2001, p224-229 Journal Article, 2001 DOI

Westphal V, Peterson S, Patterson M, Tournay A, Blumenthal A, Treacy EP, Freeze HH., Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia., Genetics in medicine : official journal of the American College of Medical Genetics, 3, (6), 2001, p393-398 Journal Article, 2001 DOI

Treacy EP, Lambert DM, Barnes R, Boriack RL, Vockley J, O'brien LK, Jones PM, Bennett MJ., Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study., The Journal of pediatrics, 137, (2), 2000, p257-259 Journal Article, 2000 DOI

Arbour LT, Silver K, Hechtman P, Treacy EP, Coulter-Mackie MB., Variable onset of metachromatic leukodystrophy in a Vietnamese family., Pediatric neurology, 23, (2), 2000, p173-176 Journal Article, 2000 DOI

Cashman JR, Akerman BR, Forrest SM, Treacy EP., Population-specific polymorphisms of the human FMO3 gene: significance for detoxication., Drug metabolism and disposition: the biological fate of chemicals, 28, (2), 2000, p169-173 Journal Article, 2000 DOI

Scriver CR, Treacy EP., Is there treatment for "genetic" disease?, Molecular genetics and metabolism, 68, (2), 1999, p93-102 Journal Article, 1999 DOI

Akerman BR, Lemass H, Chow LM, Lambert DM, Greenberg C, Bibeau C, Mamer OA, Treacy EP., Trimethylaminuria is caused by mutations of the FMO3 gene in a North American cohort., Molecular genetics and metabolism, 68, (1), 1999, p24-31 Journal Article, 1999 DOI

Mamer OA, Choinière L, Treacy EP., Measurement of trimethylamine and trimethylamine N-oxide independently in urine by fast atom bombardment mass spectrometry., Analytical biochemistry, 276, (2), 1999, p144-149 Journal Article, 1999 DOI

Treacy EP, Akerman BR, Chow LM, Youil R, Bibeau C, Lin J, Bruce AG, Knight M, Danks DM, Cashman JR, Forrest SM., Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication., Human molecular genetics, 7, (5), 1998, p839-845 Journal Article, 1998 DOI

Sasi K, Sanderson D, Eydoux P, Cartier L, Scriver CR, Treacy E., Prenatal diagnosis for inborn errors of metabolism and haemoglobinopathies: the Montreal Children's Hospital experience., Prenatal diagnosis, 17, (7), 1997, p681-685 Journal Article, 1997 DOI

Cashman JR, Bi YA, Lin J, Youil R, Knight M, Forrest S, Treacy E., Human flavin-containing monooxygenase form 3: cDNA expression of the enzymes containing amino acid substitutions observed in individuals with trimethylaminuria., Chemical research in toxicology, 10, (8), 1997, p837-841 Journal Article, 1997 DOI

Waters PI, Hewson AS, Scriver CR, Treacy EP, Martinez A, Knappskog PM, Parniak MA., Comparative analysis of phenylalanine hydroxylase A104D mutant, associated with variant phenylketonuria, and wild-type enzyme., Biochemical Society transactions, 25, (2), 1997, p362S Journal Article, 1997 DOI

Treacy EP, Delente JJ, Elkas G, Carter K, Lambert M, Waters PJ, Scriver CR., Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[1-13C]phenylalanine oxidation rates in vivo: a pilot study., Pediatric research, 42, (4), 1997, p430-435 Journal Article, 1997 DOI

Thompson GN, Hsu BY, Pitt JJ, Treacy E, Stanley CA., Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase., The New England journal of medicine, 337, (17), 1997, p1203-1207 Journal Article, 1997 DOI

Treacy E, Polychronakos C, Vekemans M, Eydoux P, Blaichman S, Scarpelli H, Ross M, Xu Y, Der Kaloustian VM., Translocation between chromosomes 6 and 15 (45,XX,t(6;15)(q25;q11.2)) with further evidence for lack of imprinting of the insulin-like growth factor II/mannose-6-phosphate receptor in humans., Journal of medical genetics, 33, (1), 1996, p42-46 Journal Article, 1996 DOI

Treacy E, Pitt JJ, Seller K, Thompson GN, Ramus S, Cotton RG., In vivo disposal of phenylalanine in phenylketonuria: a study of two siblings., Journal of inherited metabolic disease, 19, (5), 1996, p595-602 Journal Article, 1996 DOI

Treacy E, Arbour L, Chessex P, Graham G, Kasprzak L, Casey K, Bell L, Mamer O, Scriver CR., Glutathione deficiency as a complication of methylmalonic acidemia: response to high doses of ascorbate., The Journal of pediatrics, 129, (3), 1996, p445-448 Journal Article, 1996 DOI

Shevell MI, Colangelo P, Treacy E, Polomeno RC, Rosenblatt B., Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)., Pediatric neurology, 15, (4), 1996, p337-339 Journal Article, 1996 DOI

Treacy E, Childs B, Scriver CR., Response to treatment in hereditary metabolic disease: 1993 survey and 10-year comparison., American journal of human genetics, 56, (2), 1995, p359-367 Journal Article, 1995 DOI

Ramus SJ, Treacy EP, Cotton RG., Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: origin of alleles and haplotypes., American journal of human genetics, 56, (5), 1995, p1034-1041 Journal Article, 1995 DOI

Eisensmith RC, Goltsov AA, O'Neill C, Tyfield LA, Schwartz EI, Kuzmin AI, Baranovskaya SS, Tsukerman GL, Treacy E, Scriver CR., Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans., American journal of human genetics, 56, (1), 1995, p278-286 Journal Article, 1995 DOI

Treacy E, Johnson D, Pitt JJ, Danks DM., Trimethylaminuria, fish odour syndrome: a new method of detection and response to treatment with metronidazole., Journal of inherited metabolic disease, 18, (3), 1995, p306-312 Journal Article, 1995 DOI

Treacy E, Phenylketonuria, a celtic condition revisited, Irish Medical Journal, 87, (4), 1994, p100 - 102 Journal Article, 1994

Treacy E, Pitt J, Eggington M, Hawkins R., Dicarboxylic aciduria, significance and prognostic indications., European journal of pediatrics, 153, (12), 1994, p918 Journal Article, 1994 DOI

Treacy E, Danks DM., Ketotic hypoglycaemia presenting as a life-threatening situation in a child with amelia., European journal of pediatrics, 153, (1), 1994, p53 Journal Article, 1994 DOI

Treacy E, Byck S, Clow C, Scriver CR., 'Celtic' phenylketonuria chromosomes found? Evidence in two regions of Quebec Province., European journal of human genetics : EJHG, 1, (3), 1993, p220-228 Journal Article, 1993 DOI

Treacy E, Clow C, Mamer OA, Scriver CR., Methylmalonic acidemia with a severe chemical but benign clinical phenotype., The Journal of pediatrics, 122, (3), 1993, p428-429 Journal Article, 1993 DOI

Treacy E, Clow CL, Reade TR, Chitayat D, Mamer OA, Scriver CR., Maple syrup urine disease: interrelations between branched-chain amino - oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination., Journal of inherited metabolic disease, 15, (1), 1992, p121-135 Journal Article, 1992 DOI

Treacy EP, Duncan WJ, Tyrrell MJ, Lowry NJ., Neurological complications of balloon angioplasty in children., Pediatric cardiology, 12, (2), 1991, p98-101 Journal Article, 1991 DOI

Non-Peer-Reviewed Publications

Treacy EP, National Model of Care for Rare Diseases Ireland, Lenus, 2019 Report, 2019

Eileen Treacy, Invited speaker: Presentation of Member State survey and 'Irish' experience. , Workshop on ERN Training and Education., European Commission, DG Sante, Brussels, Belgium, February 17, 2019, DG Sante, European Commission Invited Talk, 2019

Department of Health, National Plan for Rare Diseases 2014-2018, Dublin, 2014 Report, 2014

Research Expertise


Epidemiology of Rare Diseases Treatment of Genetic Diseases Inborn Errors of Metabolism Galactosaemia, pathophysiology and novel treatment approaches. Co-Lead of the International GalNet consortium. Currently collaborating with European Galactosaemia colleagues in a number of Galactosaemia research projects.



National Clinical Lead for Rare Diseases December 2013 to December 2019

Director, National Rare Diseases Office 2015 to present

Member State representative to EC European Reference Networks Board of Member States 2015 to present

Irish representative to European Joint Programme on Rare Diseases General Assembly August 2019 to present