Metabolic Biochemistry Network Guidelines
The Network is a group of specialist laboratories providing tests for the diagnosis and management of patients with Inherited Metabolic Disorders across the United Kingdom. The group comprises 17 stakeholder laboratories and 5 associate laboratories.
The Network has an assay directory to source laboratory testing services in the UK for specialist metabolites and enzymes for inherited metabolic disorders. There is also an active training and education initiative and best practice guidelines aimed to help local non specialist laboratories and clinical teams.
Available Guidelines
Guidelines for the Investigation of Hypoglycaemia in Infants and Children
Guidelines for the Investigation of Hyperammonaemia for Inherited Metabolic Disorders
Appendix – Notes on the measurement of ammonia in blood/plasma
Skin Biopsy – Information Sheet for parents/carers
Neonatal Jaundice in Inherited Metabolic Disorders
Guidelines for the investigation of rhabdomyolysis for inherited metabolic disorders
Guidelines for the diagnosis of inherited metabolic disease in children with dysmorphic features
