Great Ormond Street Hospital NHS Foundation Trust

Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network

The Metabolic Medicine Service at GOSH is the principal provider of specialist child metabolic medicine services, both emergency and elective, for London (North of the Thames) and the surrounding counties. The service provides a national and international service for the management of rare and complex paediatric metabolic condition and is the largest paediatric metabolic centre in the UK. We see patients from 0-16 years with suspected or diagnosed metabolic disease. We are one of three designated nationally commissioned NHS specialised service for the management of children with lysosomal storage disease.
In addition to providing treatment for all major paediatric metabolic conditions, the department offers sub-specialist expertise in highly specialized services ; lysosomal storage disorders (LSD); neurometabolic disorders, mitochondrial disorders and congenital disorders of glycosylation.

The Clinical Biochemistry department at GOSH is one of the UK newborn screening centres.The Metabolic Medicine Department provides the follow-up care of patients identified by the national neonatal screening programmes (currently including: phenylketonuria (PKU) and medium chain acyl-CoA dehydrogenase (MCAD) deficiency).The metabolic biochemistry laboratory participates in the European (ERNDIM)(www.erndim.org)and the UK quality assurance programme United Kingdom National External Quality Assessment Service (UK NEQAS)( www.ukneqas.org.uk)..

The Metabolic 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 also provided. Disease specific clinics are offered for PKU, MCAD deficiency, LSD, galactosaemia, familial hypercholesterolaemia and mitochondrial disorders.

Diagnostic and treatment services for entire range of Metabolic Disorders including:
Aminoacid and organic acids related disorders
Disorders of pyruvate metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism
Carbohydrate, fatty acid oxidation and ketone bodies disorders
Lysosomal disorders
Peroxisomal and lipid related disorders
Congenital disorders of glycosylation and disorders of intracellular trafficking
Other metabolic disorders

24/7 cover for emergency advice and care

Research facilities for interventional and noninterventional studies, including novel therapies and gene therapy

Networking with other centres of expertise within UK and Europe – EIMD, EHOD, Euroglycanet, LSD Expert Advisory group, BIMDG, SSIEM.