Paediatric Metabolic Laboratory…

… is dedicated to the provision of high quality specialist testing for a wide range of inherited and acquired metabolic disorders.  The service works in close collaboration with genetic, endocrine, mitochondrial disorders and newborn screening colleagues within the Trust to provide an integrated approach to a complex group of diseases. These include disorders of:

• Organic acid metabolism
• β-Oxidation and ketogenesis
• Sterol metabolism
• Amino acid metabolism
• Peroxisomal metabolism
• Carbohydrate metabolism
• Vitamin and cofactor metabolism

Many of these, largely genetically determined, disorders can cause serious disability and so their timely diagnosis and treatment is extremely important.  Although tests are listed with their respective turnaround times, the laboratory is very willing to accept and prioritise urgent tests on request.

The Paediatric Metabolic service works closely with specialist clinical colleagues to promote the best possible care for patients.

The laboratory is part of a network of nationally recognised specialist diagnostic laboratories which allows the investigation, diagnosis and ongoing management of patients with very rare disorders.