About the department
The Metabolic laboratory at Sheffield Children’s Hospital is one of the foremost metabolic laboratories in the UK offering a wide range of metabolic assays covering the organic acidaemias, aminoacidopathies & peroxisomal biogenesis disorders in addition to a fully comprehensive diagnostic service for fatty acid oxidation defects and a wide range of other metabolite & functional enzyme assays.
Metabolic Biochemistry continues to be organised in two subsections which are :
- Metabolic Biochemistry
- Tissue Culture /Enzyme Assay
Metabolic Biochemistry provides testing related to the detection and monitoring of patients with a wide range of inherited metabolic disorders. However for some metabolites the laboratory takes in samples from all over the UK & beyond.
Testing includes organic acids, amino acids, acylcarnitine profiling & intermediary metabolites as well as the more specialist assays including sterols, trimethylamine and quantitation of a range of compounds by GC-MS. A comprehensive service for the biochemical investigation of peroxisomal defects is also available.
Tissue Culture and Enzyme Assay Service provides a tissue culture service for the investigation of metabolic disorders to Sheffield Children’s Hospital and cultures skin biopsies for metabolic investigations for other hospitals within the region and for some hospitals outside the region, for example Dublin Children’s Hospital. The service investigates over 450 patient cell lines each year & has state of the art facilities for long term cryopreservation of fibroblast cell lines.
The service also provides a regional and national service for the investigation of fatty acid oxidation disorders, glutaryl-CoA dehydrogenase deficiency & fumarate hydratase deficiency. The fatty acid oxidation service also takes in samples from outside the UK, most notably, Toronto Children’s Hospital & Dublin Children’s Hospital.
The service also provides a diagnostic assay service for a range of organic acidaemias & amino acidopathies. A prenatal diagnostic service is also available for approximately 14 disorders, although these are being increasingly superseded by molecular testing.
There are strong and developing links with our Molecular Genetic Service. Full mutation analysis now being available for a range of fat oxidation defects including VLCAD, CPT2, carnitine acylcarnitine translocase, all glycogen storage diseases, all urea cycle defects as well as for glutaryl-CoA dehydrogenase. Molecular Genetics mutation analysis for peroxisomal defects includes the genes PEX1, PEX6, PEX12, PEX10 & PEX26.