About the Metabolic Medicine department

Welcome to the homepage of the Metabolic Medicine Department at Great Ormond Street Hospital (GOSH).

The Department of Paediatric Metabolic Medicine 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 Department also provides a national and international service for the management of rare and complex paediatric metabolic conditions. Our Metabolic service 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 diseases.

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

In addition to providing treatment for all major paediatric metabolic conditions, the department offers sub-specialist expertise in the areas of lysosomal storage disorders (LSD); funded centrally as 'Highly Specialised Services' (AGNSS), neurometabolic disorders, mitochondrial disorders and congenital disorders of glycosylation.

The metabolic team is a multi-disciplinary team formed of consultants and clinical nurse specialist nurses with the support of specialist dietitians, specialised metabolic laboratory, physiotherapist, clinical psychologist and speech and language therapist.

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 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.

We see ALL neonates from our catchment area with positive neonatal screening. Both PKU and MCAD are part of the national neonatal screening programme.

Currently a study is taking place in five areas of England to explore the potential for an extended newborn screening programme. GOSH is part of this study and screening for an additional five metabolic diseases; maple syrup urine disease, homocystinura (pyridoxine unresponsive), isovaleric acidaemia, glutaric aciduria type 1, long-chain hydroxly acyl-CoA dehydrogenase.

The department of Metabolic Medicine works closely with a number of other departments within GOSH and the Institute of Child Health (ICH). These include:

Biochemistry, Endocrinology and Metabolism Unit, ICH

Dietetics and Nutrition, GOSH

Neurology, GOSH

Molecular and Clinical Genetics Unit, GOSH/ ICH

Intensive Care, GOSH

Cardiac Services, GOSH

Endocrinology, GOSH

Nephrology, GOSH

Radiology, GOSH

Adolescent & Adult Metabolic Service, The National Hospital for Neurology & Neurosurgery, Royal Free Hospital.