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Inherited metabolic disorders: adult and paediatric

Published on 17 June 2020

The service provides highly specialist care for children and adults with a known or suspected inherited metabolic disorder (IMD). The lead provider for the service is NHS Greater Glasgow and Clyde (GG&C).

What does the IMD Service provide?

Inherited metabolic disorders (IMD) are a group of approximately 600 rare genetic conditions that result in metabolism problems. Most people with inherited metabolic disorders have a defective gene that results in an enzyme deficiency. Symptoms, treatments, and prognoses for individual IMDs vary widely.

Many individuals with IMD are identified due to illness or disability caused by the disorder. They can present at any age, from birth into late adulthood, but most people with IMD will receive diagnosis in childhood.

The service aims to improve life expectancy and quality of life for people with IMD. It provides diagnosis, as well as advice and treatment to manage and control symptoms. Most people will require life-long follow-up and support from the service. A large proportion of people with IMD will have to adhere to strictly controlled diets. Some individuals with IMD also receive drug treatments, such as enzyme replacement therapy (ERT) and other rarely used drugs.

A single team provides the service at multiple sites in both NHS GG&C and NHS Lothian.

Find further information about inherited metabolic disorders on the IMD Scotland website.

Lead clinician

Dr Alison Cozens, Consultant in Paediatric Metabolic Medicine, NHS Lothian

NSD contact

Senior Programme Manager, Anke Roexe – anke.roexe@nhs.net – 0131 3141053

Address

Royal Hospital for Children
1345 Govan Rd
Glasgow
G51 4T