About IMD

Inherited metabolic disorders (IMD) are a group of rare conditions, defined by the British Inherited Metabolic Disease Group as follows:

Inherited metabolic diseases comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds.

People with IMDs may be diagnosed through the Newborn Screening Programme, family screening or due to illness or disability caused by the disorder. They can present at any age, from birth into late adulthood, although most people with IMDs will be diagnosed in childhood.

We are currently aware of more than 1,000 children and adults with IMDs in Scotland. Greater awareness, new laboratory techniques and expanding screening programmes have identified more children and adults with IMDs than ever before and this will continue. Improvements in treatment have enabled more children with IMDs to grow into adulthood, increasing the need for specialist adult services, including maternity services.

Due to the complexity of IMD and the fact that individually, all IMDs are rare conditions, certain aspects of care for children and adults with IMD may not always be available locally but are delivered through a national network of clinicians and services across Scotland. In some circumstances, children or adults with IMD may also need to access highly specialised services outside of Scotland. Support is set up nationally to ensure that access to these services is available to those who need it.

 

Emergency Information for Healthcare Professionals

If you are a healthcare professional in Scotland and need information on dealing with metabolic emergencies please click here.