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Latest news
GP survey – Unified Point of Access for Enhanced Rapid Response & @home
Pathway Homeless Team to continue for a further year
Redevelopment of Queen Mary's Hospital, Sidcup
GP survey - children’s occupational therapy
Transforming Outcomes and Health Through Imaging (TOHETI)
Service updates
No NHSmail fax referrals to the district nursing service
District Nursing Service – contact details
Prolonged Jaundice Service at Guy’s and St Thomas’
Evelina Centre for Inherited Metabolic Disease Service
Menopause and early menopause clinics
Tuberculosis community nurse-led service
Pathology updates from Viapath
Labelling sample and request forms
Training and events
Free gynaecology update for GPs at Guy’s Hospital
Training and events
SAGE & THYME - a free 3 hour workshop on recognising and managing distress
Transforming end of life care
The Allergy Academy Spring Programme
Resilience in Healthcare Masterclass
5th Annual Anogenital and Oral Dermatology Course
Skin Biopsy Course
Bespoke education programme for teenagers with atopic eczema
Adult Metabolic Study Day
Delirium and Dementia
Eating peanut at an early age prevents peanut allergy
Alex Risorto
Tel: 020 7188 4978
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Evelina Centre for Inherited Metabolic Disease Service

We provide a clinical Inherited Metabolic Disease (IMD) service both for children and adults based at Evelina London Children’s Hospital. IMD represents a group of more than 600 inherited conditions due to disruption of a single or multiple metabolic pathway leading to a diverse range of clinical presentations.

Phenylketonuria (PKU) is one of the most common metabolic diseases. Pregnant women with PKU should be referred by their GP if not already under the care of a metabolic specialist. This is because high phenylalanine levels disturb the development of the foetus and raised levels during pregnancy can cause microcephaly, mental retardation, congenital heart disease, spontaneous abortion, and low birth weight.

In collaboration with four major metabolic laboratories, the clinical IMD service provides diagnostic procedures in addition to acute and long term management of patients with a metabolic disorder. The most common conditions include:

  • Amino acid disorders, eg Phenylketonuria (PKU) and Urea cycle disorders
  • Carbohydrate disorders
  • Organic acid disorders 
  • Glycogen storage disorders
  • Lysosomal Storage Disorders (LSDs), eg Gaucher disease, Fabry disease, Mucopolysaccharidosis 1 (MPS1)
  • Purine/pyrimidine disorders
  • Fatty acid oxidation defects, eg Medium Chain Acyl CoA enzyme dehydrogenase deficiency (MCADD)
  • Mitochondrial disorders.

Please refer to:

Adult Metabolic Consultant

Fax 020 7188 8901

For more information please contact:

Joanna Gavin (Medical Secretary) Tel 020 7188 4004

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