Dr Elaine Murphy

Dr Elaine MurphyTel: 020 3448 4778 / 020 3448 3213
Fax: 020 7209 2146
Email: elaine.murphy8@nhs.net

National Hospital for Neurology and Neurosurgery

Metabolic Disease (Adult Inherited)

Professional background

Elaine Murphy qualified from Trinity College, Dublin.  She trained in chemical pathology / metabolic medicine at Imperial College NHS Trust, London and developed a specialist interest in inherited metabolic disease.  She has worked as a consultant at the Charles Dent Metabolic Unit, based at the National Hospital for Neurology and Neurosurgery, Queen Square since 2008.  The unit manages over 1400 adult patients with rare inherited disorders of metabolism, including phenylketonuria, glycogen storage disorders, urea cycle defects, galactosemia, fatty acid oxidation defects, peroxisomal disorders and inherited hypophosphatemia.  It is also a national specialised commissioning team (NSCT) centre for the management of patients with lysosomal storage disorders (including, among others, Fabry disease, Pompe disease, Gaucher disease and the mucopolysaccaridoses).

Research interests

Pregnancy and inherited metabolic disease
Clinical trials of new therapies in patients with inherited metabolic disease
Long-term outcomes in inherited metabolic disease


Kirmi O, Murphy E, Carecchio M, Sulkin T, Rankin J, Robertson F.
Teaching NeuroImages: Progressive asymmetric parkinsonism and tendon xanthomas.  Neurology. 2011 Oct 25;77(17):e97-8.

Ramachandran R, Wedatilake Y, Coats C, Walker F, Elliott P, Lee PJ, Lachmann RH, Murphy E.
Pregnancy and its management in women with GSD type III - a single centre experience.  J Inherit Metab Dis. 2011 Sep 7. [Epub ahead of print]

Langendonk JG, Roos JC, Angus L, Williams M, Karstens FP, de Klerk JB, Maritz C, Ben-Omran T, Williamson C, Lachmann RH, Murphy E. 
A series of pregnancies in women with inherited metabolic disease.  J Inherit Metab Dis. 2011 Sep 15. [Epub ahead of print]

O'Mahony C, Coats C, Cardona M, Garcia A, Calcagnino M, Murphy E, Lachmann R, Mehta A, Hughes D, Elliott PM. 
Incidence and predictors of anti-bradycardia pacing in patients with Anderson-Fabry disease.  Europace. 2011 Dec;13(12):1781-8. Epub 2011 Aug 18.

Calcagnino M, O'Mahony C, Coats C, Cardona M, Garcia A, Janagarajan K, Mehta A, Hughes D, Murphy E, Lachmann R, Elliott PM. 
Exercise-induced left ventricular outflow tract obstruction in symptomatic patients with Anderson-Fabry disease.  J Am Coll Cardiol. 2011 Jun 28;58(1):88-9.

Carecchio M, Schneider SA, Chan H, Lachmann R, Lee PJ, Murphy E, Bhatia KP.  Movement disorders in adult surviving patients with maple syrup urine disease.  Mov Disord. 2011 Jun;26(7):1324-8. doi: 10.1002/mds.23629. Epub 2011 Apr 11.

Dawson C, Murphy E, Maritz C, Chan H, Ellerton C, Carpenter RH, Lachmann RH. Dietary treatment of phenylketonuria: the effect of phenylalanine on reaction time.  J Inherit Metab Dis. 2011 Apr;34(2):449-54. Epub 2011 Feb 3.

Elaine Murphy; Claus C Gluer; David M Reid; Dieter Felsenberg; Christian Roux; Richard Eastell; Graham R Williams.
Thyroid function within the upper normal range is associated with reduced bone mineral density and an increased incidence of hip fracture in healthy euthyroid post-menopausal women. J Clin Endocrinol Metab. 2010 Jul;95(7):3173-81.

Kyprianou N, Murphy E, Lee P, Hargreaves I.  Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia.  J Inherit Metab Dis 2009 Apr;32(2):289-96.

O'Gorman DJ, Yousif O, Dixon G, McQuaid S, Murphy E, Rahman Y, Gasparro D, Pacini G, Newsholme P, Nolan JJ. 
In vivo and in vitro studies of GAD-antibody positive subjects with Type 2 diabetes: A distinct sub-phenotype.    Diabetes Res Clin Pract 2008 Jun;80(3):365-70.

Bassett JHD, Williams AJ, Murphy E, Boyde A, Howell PGT, Swinhoe R, Archanco M, Flamant F, Samarut J, Costagliola S, Vassart G, Weiss R, Refetoff S, Williams GR. 
A lack of thyroid hormones rather than excess TSH causes abnormal skeletal development in hypothyroidism.  Mol Endocrinol 2008 Feb;22(2):501-12.

Moisey R, Wright D, Aye M, Murphy E, Peacey SR. 
Interpretation of the short Synacthen test in the presence of low cortisol-binding globulin: two case reports. Ann Clin Biochem 2006 Sep;43(Pt 5):416-9. 

Carel le Roux, Elaine Murphy, Paula Hallam, Simone McChesney, Maggie Lilburn, Philip J Lee.
Neuropsychometric outcome predictors for adults with maple syrup urine disease.  J Inherit Metab Dis 2006 Feb;29(1):201-2.

Carel Le Roux, Elaine Murphy, Maggie Lilburn, Philip J Lee.
An update of the longest surviving patient with maple syrup urine disease.  J Inherit Metab Dis 2006 Feb;29(1):190-4.

Rajappan K, Murphy E, Amber V, Meakin F, Muller B, Fox KF, Baker CS.
Usage of troponin in the real world: a lesson for the introduction of biochemical assays.  QJM 2005 May;98(5):337-42.

LeRoux CW, Murphy E, Seed M.
A retrospective assessment of the effectiveness of fenofibrate 267mg on high-density lipoprotein cholesterol levels in patients attending a lipid clinic.  Clin Ther 2001 Jul; 24(7):1154-60.

Mari A, Pacini G, Murphy E, Ludvik B, Nolan JJ.
A model-based method for assessing insulin sensitivity from the oral glucose tolerance test. Diabetes Care 2001 24(3):539-548.

Conroy SJ, Abdel-Wahab YH, Caraher EM, Byrne PM, Murphy E, Nolan J, Flatt PR, Newsholme P.
Evidence for complement-dependent and -independent inhibition of insulin secretion from clonal beta-cells incubated in the sera of newly diagnosed IDDM patients.  J Endocrinology 2000 164(2):139-147.

Murphy E, Mealy.
Timing of operation for appendicitis.  B J Surg 1997 84(7):1004-1005.

Invited reviews:
Murphy E, Williams GR. Hypocalcaemia. Medicine 2009 37:9 465-8.
Galliford TM1, Murphy E1, Williams AJ,  Bassett JHD, Williams GR.  Effects of thyroid status on bone metabolism:  a primary role for TSH or thyroid hormone? Minerva Endocrinol 2005 Dec;30(4):237-46.

Murphy E, Williams GR. The thyroid and the skeleton. Clin Endocrinol 2004 61(3):285-98.

Murphy E, Williams GR. Thyroid hormone and bone development. Hot thyroidology (www.hotthyroidology.com), May, No 1, 2004.

Murphy E, Nolan JJ. Insulin Sensitiser Drugs.  Exp Opin Invest Drugs 2000 9(6):1347-3784.

Book chapters:
Murphy E.  Cognitive and behavioral manifestations of disorders of homocysteine metabolism.  In: Cognitve and behavioural abnormalities of paediatric diseases.  Editors: Ruth Nass and Yitzchak Frank, (Oxford University Press, 2010).

Nolan JJ, Murphy E. Does IGT really exist, and if so what should be done about it? In: Difficult Diabetes – Current Management Challenges, Editors: Gill, Williams and Pickup (Blackwell, 2000).

GMC/GDC number: 4711450