Refer a patient to the Paediatric Metabolic Medicine department

This page includes information about how to refer a patient to the Paediatric Metabolic Medicine department at Great Ormond Street Hospital.

Please see our admission criteria for information about the diagnoses treated by the Department of Paediatric Metabolic Medicine at GOSH.

How to refer a patient

For an outpatient appointment

As a tertiary care hospital, all children who attend Great Ormond Street Hospital must be referred via local hospital consultants, community paediatricians or, in exceptional circumstances, via a GP.
To make a referral to the Metabolic Medicine Department, please write to:

Department of Metabolic Medicine
Level 5, Southwood Building
Great Ormond Street Hospital
Great Ormond Street
London
WC1N 3JH

Alternatively please email gos-tr.referrals@nhs.net 

Inter hospital transfer

For emergency admissions please contact the GOSH switchboard on 020 7405 9200 and ask for the on-call metabolic medicine registrar.

How to get advice

For patients known to GOSH

All queries should be directed to our secretarial team:

Department of Metabolic Medicine
Level 5, Southwood Building
Great Ormond Street Hospital
Great Ormond Street
London
WC1N 3JH

For patients not known to GOSH

For urgent clinical advice about a patient not known to our department, please contact the GOSH switchboard on 020 7405 9200 and ask for the on-call metabolic medicine consultant.

For non-urgent advice, the consultant team may be contacted via the secretarial team - details above.

GOSH Centre for Endocrine and Metabolic Diagnostics

Please note that this is a diagnostic service only available to our agreed list of referrers. Results will be returned to the referrer for interpretation.

Key staff members

Consultants

Other staff

Services and facilities available

The department of Paediatric Metabolic Medicine at Great Ormond Street Hospital (GOSH) is the largest paediatric metabolic centre in the UK.

We are the principal provider of specialist child metabolic medicine services for London (north of the Thames) and the surrounding counties.

The department also provides a national and international service for the management of rare and complex paediatric metabolic conditions.

The aims of the department are to provide efficient, high quality, multi-disciplinary care to children with metabolic disorders.

The department offers sub specialist expertise in the areas of lysosomal storage disorders (funded by the National Commissioning Group), neurometabolic disorders, mitochondrial disorders and congenital disorders of glycosylation.

The Clinical Biochemistry department at GOSH is one of the UK’s newborn screening centres.

The Metabolic Medicine department provides a service to deal with the follow-up care of patients in north Thames identified by the national neonatal screening programmes. These currently detect phenylketonuria (PKU) and medium chain acyl-CoA dehydrogenase (MCAD) deficiency.

The metabolic medicine team sees a vast number of inborn errors of metabolism and runs clinics for these patients which are held in the Royal London Hospital for Integrated Medicine (formerly the Royal London Homeopathic Hospital (RLHH).

Phlebotomy services are provided. Disease-specific clinics are offered for PKU, MCAD deficiency, LSD, galactosaemia, familial hypercholesterolaemia and mitochondrial disorders.

The multi-disciplinary metabolic medicine team consists of: medical and nursing staff, dietitians, a physiotherapist, biochemists, psychologists, a social worker and others.

The department works closely with a number of other departments within GOSH and the University College London (UCL) Institute of Child Health (ICH).

We deal with a number of different conditions. The majority of the following conditions will be treated by special diets and appropriate medication:

  • Phenylketonuria

  • Medium chain acyl CoA dehydrogenase deficiency (MCAD)

  • Maple syrup urine disease (MSUD)

  • Glycogen storage disease (GSD)

  • Organic and amino acidopathies

  • Urea cycle defects

  • Hyperlipidaemia

  • Lysosomal storage disorders

Elective investigations and specialised treatments (such as enzyme replacement therapy) might be undertaken on Kingfisher Ward which is a nurse-led unit with considerable experience of a wide range of investigative and therapeutic protocols.

The ward provides 18 beds. There is a playroom which is always open, with toys and games for all ages as well as a TV and a games machine.

Feedback and suggestions

All general feedback and suggestions can be directed to:

Management contacts for the service are as follows

  • Juliet Aghion Assistant Service Manager
  • Telephone number: 020 7829 8770