Network members and associated colleagues are preparing best practice guidelines aimed to help the local laboratory and clinical teams. These are laboratory based guidelines which have been formulated by expert opinion. They are not evidence based guidelines.
If users/readers have any comments on any aspect of these guidelines the network would very much want to hear from you.
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- UK Metabolic Biochemistry Network Recommendations for
- Lysosomal enzyme reporting
- Investigation of Global Developmental Delay for Inherited Metabolic Disorders
- Investigation of Fits and Seizures for Inherited Metabolic Disorders
- Biochemical Investigation of Patients with Foetal and Neonatal Hydrops
- Diagnosis of inherited metabolic disease in children with dysmorphic features
- Amino Acid Analysis
- Investigation of Hyperammonaemia:
- Investigation of Metabolic Causes of Cardiomyopathy
- Investigation of hypoglycaemia in infants and children
- Investigation of rhabdomyolysis
- Metabolic investigations of sudden infant death
- Metabolic Liver Disease in the Older Child
- Neonatal Jaundice in Inherited Metabolic Disorders
- Analysis of Urinary Organic Acids by Gas Chromatography Mass Spectrometry
- BIMDG Guidelines
DISCLAIMER - Terms and Conditions of Use
These guidelines represent best practice in the opinion of the author(s) and have been peer reviewed. However, the evidence used in their compilation may not be identifiable and has not been graded. Furthermore new evidence at any time can invalidate these recommendations. No liability whatsoever can be taken as a result of using this information.
UK Metabolic Biochemistry Network Recommendations for:
Lysosomal enzyme reporting
Posted: June 2021,
Due for review: 1-Nov-2025,
Organisation: MetBio.Net
Author: K Harvey, V Warburton
Investigation of Global Developmental Delay for Inherited Metabolic Disorders
Updated 30 November 2020 (Version 3. October 19)
Posted: 30-Nov-2020,
Due for review: 30-Nov-2024,
Organisation: National Metabolic Biochemistry Network
Author: Dr. Sarah Hogg
Investigation of Fits and Seizures for Inherited Metabolic Disorders
Posted: 26/11/2024,
Due for review: 26/11/2028,
Organisation: National Metabolic Biochemistry Network
Author: Mr Robert Barski
Biochemical Investigation of Patients with Foetal and Neonatal Hydrops
Posted: 28-Jan-2013, Due for review: 28-Jan-2018,
Organisation: National Metabolic Biochemistry Network
Author: George Gray
Diagnosis of inherited metabolic disease in children with dysmorphic features
Posted: 28-Jan-2013,
Due for review: 28-Jan-2018,
Organisation: National Metabolic Biochemistry Network
Author: Dr George Gray
Amino Acid Analysis
Posted: 19/05/2023, Due for review: 19/05/2028,
Organisation: MetBioNet
Author: Stuart Moat
Investigation of Hyperammonaemia:
Posted: 26/11/2024, Due for review: 26/11/2028
Organisation: MetBioNet
Author: Helen Aitkenhead
Investigation of Metabolic Causes of Cardiomyopathy
Posted: June 2024,
Due for review: 13-Jul-2026,
Organisation: National Metabolic Biochemistry Network
Author: Ann Bowron, Laura Hinchcliffe
Investigation of hypoglycaemia in infants and children
Posted: March-2025,
Due for review: March-2027,
Organisation: National Metabolic Biochemistry Network
Author: Rebecca Hopkins, Victoria Warburton
Investigation of rhabdomyolysis
Posted: June 2024, Due for review: 2026,
Organisation: National Metabolic Biochemistry Network
Author: Joanne Croft
Metabolic investigations of sudden infant death
Posted: 16-09-2024. Due for review: 16-09-2026.
Organisation: National Metabolic Biochemistry Network
Author: Camilla Scott and Corey Pritchard
Metabolic Liver Disease in the Older Child
Posted: 19-Nov-2018,
Due for review: 19-Nov-2022,
Organisation: National Metabolic Biochemistry Network
Author: Mary Anne Preece, Fiona Carragher, Roshni Vara
Neonatal Jaundice in Inherited Metabolic Disorders
Posted: 28-Jan-2013, Due for review: 28-Jan-2018,
Organisation: National Metabolic Biochemistry Network
Author: Dr. Sarah Heap and Dr Gemma Holder
Analysis of Urinary Organic Acids by Gas Chromatography Mass Spectrometry
November 2018
Posted: 30-Nov-2020, Due for review: 30-Nov-2024,
Organisation: MetBio.Net
Author: RS Carling, R Barski, SL Hogg, K Witek and SJ Moat
Support for remote/virtual IMD clinics - IMD monitoring on patient collected samples
Updated 30 November 2020 (Version 3. October 19)
Posted: 26-02-2024,
Due for review: 15-09-2029,
Organisation: National Metabolic Biochemistry Network
Author: Dr. Helena Kemp