Metabolic Specilists Units 

University College London -Charles Dent Metabolic Unit 

Dr Robin Lachmann

Tel: 020 3448 4778 / 020 3448 3213
Fax: 020 7209 2146
Email: r.lachmann@nhs.net

Location:
National Hospital for Neurology and Neurosurgery

Specialities:
Metabolic Disease (Adult Inherited)

Professional background

Member of Council, Royal College of Physicians
Vice Chair, Metabolic Disorders Clinical Reference Group
Chair of the Scientific Committee of the Recordati Rare Diseases  Academy
Chair of the Adult Group of the Society for the Study of Inborn Errors of Metabolism

Research interests

  • Inherited metabolic diseases

  • Lysosomal storage diseases

The Charles Dent Metabolic Unit is one of the largest and longest established services in the world for the treatment of adolescents and adults with inherited metabolic diseases. We are one of the designated national lysosomal storage disease centres. The Unit provides specialist medical, dietetic, psychological and nursing advice and has a purpose-built metabolic diet kitchen to support treatment and education of patients. We also have an infusion unit which provides the facilities needed for patients on enzyme replacement and other therapies.
 
Conditions treated

We care for adult patients with inborn errors of metabolism. For many conditions, disease modifying treatments are available but all patients are offered regular review and symptomatic treatment.

Patient support services

Patient support is provided by two clinical nurse specialists,  a clinical psychologist, three metabolic dietitians and a dietetic assistant. Which team members are involved with each patient depends on diagnosis, type of treatment and patient need.

Patient aftercare

Our patients have genetic conditions and therefore require lifetime follow-up.

Elaine Murphy

Tel: 020 3448 4778 / 020 3448 3213
Fax: 020 7209 2146


Email: elaine.murphy8@nhs.net

Location:
National Hospital for Neurology and Neurosurgery

Specialities:
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

Imperial College London

Dr Steve Mitchell

Faculty of Medicine, Department of Metabolism, Digestion and Reproduction

The primary focus of current research is the 'fish-odour syndrome', a distressing complaint which causes the sufferer to emanate a pungent odour resembling that of rotten and decaying fish. Pharmacogenetic screening in a British population has established that the afflicted individuals have an impaired ability to N-oxidize trimethylamine and that this problem, which affects roughly 1 in 30,000, is inherited as an autosomal recessive trait. Such conditions have also been shown to occur in other populations

Prof Elizabeth Shephard 

Department of Structural and Molecular Biology

 

Research is focussed on the so-called drug metabolizing enzyme (DME) families, flavin-containing monooxygenases (FMOs) and cytochromes P-450 (CYPs). DMEs make it possible for an organism to be exposed to foreign chemicals e.g. therapeutic drugs, environmental pollutants, dietary components and plant products and to respond by metabolising such compounds to allow their clearance from the body. Using knockout models we have identified key roles for FMOs not only in drug and foreign chemical metabolism but also in energy metabolism. FMOs therefore have a dual role both in xenobiotic and endogenous metabolism. The biochemical consequences of genetic variation within these DME gene families for drug therapy and human health are of particular interest.  Our research includes also studies of the perceptions of the clinical profession and the public in the use of medical therapies based on personalised genetic profiles (pharmacogenetics).

Of special interest is the genetic disorder primary trimethylaminuria, which arises because bacteria in the gut break down some dietary constituents and in the process release trimethylamine. Mutations in the FMO3 gene prevent conversion of odorous trimethylamine to its non-odorous N-oxide. The disorder manifests in the excretion of large amounts of trimethylamine in the breath, sweat and urine.

The Mark Holland Metabolic Unit

About The Mark Holland Metabolic Unit

The Mark Holland Metabolic Unit at the Salford Royal is a designated specialist centre and as such accommodates patients across the UK and Northern Ireland.

 

In fact fewer than half of our total number of patients live in and around the Manchester area. People travel from as far away as Northern Ireland and Scotland to attend every six months to one year.

 

Almost all the Lysosomal Storage Disorder patients who are on treatment receive this treatment in their own homes. In this respect we are very well supported by home infusion nurses. Some patients are completely independent and administer their own enzyme.  Please see Homecare Service section for further information.

 

The department also looks after numerous metabolic patients with various metabolic conditions.

 

As a team we regularly attend and contribute to specialist conferences, meetings and symposiums internationally and in the UK. We regularly organise patient information days for different metabolic conditions.

 

Further details will be sent to our patients.

 

The Mark Holland Metabolic Unit at Salford Royal is a designated specialist centre offering treatment and management for adult patients with inherited metabolic disorders. It provides service for the North of England but also accommodates patients from other geographical areas including Northern Ireland, Scotland and Wales. 

 

The department provides diagnostic services, treatment, management, on-going care and support for patients with rare inherited metabolic diseases. These disorders can be broadly classified into General Metabolic Disorders and Lysosomal Storage Disorders. All patients receive appropriate advice, management and treatment for their condition.

 

Most of these conditions are multi-system disorders, which present with a complex clinical presentation. A mutli-disciplinary team approach is needed to provide the appropriate assessment and management. Within each disorder there are varying levels of severity from mild to severe, which can present as early as childhood, in adolescence or in later life.  The conditions are predominantly grouped by their confirmed disease characteristics.

 

 

The team consists of adult metabolic consultants, advanced clinical practitioner, metabolic dietitians, physiotherapists, pharmacist, metabolic specialist nurses, research team and administration team. The department is also supported by specialist input from neurologists, respiratory physicians, cardiologists, nephrologists, radiologists, and specialist laboratory team. This makes it a true multi-disciplinary team approach for our patients.