Professional background

Dr Murphy qualified from Trinity College, Dublin in 1996. She trained in chemical pathology/metabolic medicine at Imperial College Healthcare NHS Trust, London and developed a specialist interest in inherited metabolic disease. She has worked as a consultant at the Charles Dent Metabolic Unit since 2008. 

She has a particular interest in the health of young adults, the long-term outcomes of adults with inherited metabolic disorders and the management of women in pregnancy.

Dr Murphy is currently chair of the British Inherited Metabolic Disease Group (BIMDG) and is a member of the Royal College of Physicians young adults and adolescents steering group.

Research interests

Long term outcomes and natural history of inherited metabolic disorders.
Clinical research trials of new therapies in inherited metabolic disorders.


RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature. Phadke R, Hedberg-Oldfors C, Scalco RS, Lowe DM, Ashworth M, Novelli M, Vara R, Merwick A, Amer H, Sofat R, Sugarman M, Jovanovic A, Roberts M, Nakou V, King A, Bodi I, Jungbluth H, Oldfors A, Murphy E. J Inherit Metab Dis. 2020 Mar 18. doi: 10.1002/jimd.12234. [Epub ahead of print]

Effectiveness, retention, and safety of modified ketogenic diet in adults with epilepsy at a tertiary-care centre in the UK. Green SF, Nguyen P, Kaalund-Hansen K, Rajakulendran S, Murphy E. J Neurol. 2020 Jan 10. doi: 10.1007/s00415-019-09658-6. [Epub ahead of print]

Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia. Kuiper A, Grünewald S, Murphy E, Coenen MA, Eggink H, Zutt R, Rubio-Gozalbo ME, Bosch AM, Williams M, Derks TGJ, Lachmann RHL, Brouwers MCGJ, Janssen MCH, Tijssen MA, de Koning TJ. J Inherit Metab Dis. 2019 May;42(3):451-458.

The natural history of classic galactosemia: lessons from the GalNet registry. 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. Orphanet J Rare Dis. 2019 Apr 27;14(1):86.

Investigating adults with early-onset epilepsy and intellectual or physical disability. Nashef L, Singh R, Moran N, Murphy E. Pract Neurol. 2019 Apr;19(2):115-130.

Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era. Lynch DS, Wade C, Paiva ARB, John N, Kinsella JA, Merwick Á, Ahmed RM, Warren JD, Mummery CJ, Schott JM, Fox NC, Houlden H, Adams ME, Davagnanam I, Murphy E, Chataway J. J Neurol Neurosurg Psychiatry. 2019 May;90(5):543-554.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry. Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium, Alcalde Martin C, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J. J Inherit Metab Dis. 2019 Mar;42(2):333-352.

Cardiac Phenotype of Prehypertrophic Fabry Disease. Nordin S, Kozor R, Baig S, Abdel-Gadir A, Medina-Menacho K, Rosmini S, Captur G, Tchan M, Geberhiwot T, Murphy E, Lachmann R, Ramaswami U, Edwards NC, Hughes D, Steeds RP, Moon JC. Circ Cardiovasc Imaging. 2018 Jun;11(6):e007168.

Proposed Stages of Myocardial Phenotype Development in Fabry Disease. Nordin S, Kozor R, Medina-Menacho K, Abdel-Gadir A, Baig S, Sado DM, Lobascio I, Murphy E, Lachmann RH, Mehta A, Edwards NC, Ramaswami U, Steeds RP, Hughes D, Moon JC. JACC Cardiovasc Imaging. 2018 May 11. pii: S1936-878X(18)30307-3. doi: 10.1016/j.jcmg.2018.03.020.

Mucolipidosis type III, a series of adult patients. Oussoren E, van Eerd D, Murphy E, Lachmann R, van der Meijden JC, Hoefsloot LH, Verdijk R, Ruijter GJG, Maas M, Hollak CEM, Langendonk JG, van der Ploeg AT, Langeveld M. J Inherit Metab Dis. 2018 Sep;41(5):839-848.

Increased resting cerebral blood flow in adult Fabry disease: MRI arterial spin labeling study. Phyu P, Merwick A, Davagnanam I, Bolsover F, Jichi F, Wheeler-Kingshott C, Golay X, Hughes D, Cipolotti L, Murphy E, Lachmann RH, Werring DJ. Neurology. 2018 Apr 17;90(16):e1379-e1385.

Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations. Chesher D, Oddy M, Darbar U, Sayal P, Casey A, Ryan A, Sechi A, Simister C, Waters A, Wedatilake Y, Lachmann RH, Murphy E. J Inherit Metab Dis. 2018 Sep;41(5):865-876.

Poorly Controlled Homocystinuria: A Rare Cause of Ischemic Priapism? Johnson M, Murphy E, Raheem A, Ralph D. Sex Med. 2018 Feb 17. pii: S2050-1161(18)30016-3.

Healthcare resource use and costs of managing children and adults with lysosomal acid lipase deficiency at a tertiary referral centre in the United Kingdom. Guest JF, Ingram A, Ayoub N, Hendriksz CJ, Murphy E, Rahman Y, McKiernan P, Mundy H, Deegan P. PLoS One. 2018 Feb 2;13(2):e0191945

Isolated aortic root dilation in homocystinuria. Lorenzini M, Guha N, Davison JE, Pitcher A, Pandya B, Kemp H, Lachmann R, Elliott PM, Murphy E. J Inherit Metab Dis. 2017 Oct 4.

Issues with European guidelines for phenylketonuria. Burgard P, Ullrich K, Ballhausen D, Hennermann JB, Hollak CEM, Langeveld M, Karall D, Konstantopoulou V, Maier EM, Lang F, Lachmann R, Murphy E, Garbade S, Hoffmann GF, Kölker S, Lindner M, Zschocke J. Lancet Diabetes Endocrinol. 2017 Sep;5(9):681-683.

Iatrogenic B12-deficient peripheral neuropathy following nitrous oxide administration for functional tonic leg spasm: A case report. Kaski D, Kumar P, Murphy E, Warner TT. Clin Neurol Neurosurg. 2017 Sep;160:108-110.

Clinical and genetic characterization of leukoencephalopathies in adults. Lynch DS, Rodrigues Brandão de Paiva A, Zhang WJ, Bugiardini E, Freua F, Tavares Lucato L, Macedo-Souza LI, Lakshmanan R, Kinsella JA, Merwick A, Rossor AM, Bajaj N, Herron B, McMonagle P, Morrison PJ, Hughes D, Pittman A, Laurà M, Reilly MM, Warren JD, Mummery CJ, Schott JM, Adams M, Fox NC, Murphy E, Davagnanam I, Kok F, Chataway J, Houlden H. Brain. 2017 May 1;140(5):1204-1211.

Expanding the phenotype in argininosuccinic aciduria: need for new therapies. Baruteau J, Jameson E, Morris AA, Chakrapani A, Santra S, Vijay S, Kocadag H, Beesley CE, Grunewald S, Murphy E, Cleary M, Mundy H, Abulhoul L, Broomfield A, Lachmann R, Rahman Y, Robinson PH, MacPherson L, Foster K, Chong WK, Ridout DA, Bounford KM, Waddington SN, Mills PB, Gissen P, Davison JE. J Inherit Metab Dis. 2017 Mar 1. doi: 10.1007/s10545-017-0022-x. [Epub ahead of print]

Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy. Lakshmanan R, Adams ME, Lynch DS, Kinsella JA, Phadke R, Schott JM, Murphy E, Rohrer JD, Chataway J, Houlden H, Fox NC, Davagnanam I. Neurol Genet. 2017 Feb 15;3(2):e135.