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Metabolic Biochemistry

gloved hands holding sample

In Metabolic Biochemistry we provide testing related to the detection and monitoring of patients with a wide range of inherited metabolic disorders.

We are made up of Metabolic Biochemistry and Tissue Culture / Enzyme Assay and are part of the Trent Inherited Metabolic Disease Network.


Testing includes organic acids, amino acids, acylcarnitine profiling and intermediary metabolites as well as the more specialist assays including sterols, trimethylamine, bile salts and quantitation of a range of compounds by gas chromatography mass spectrometry (GS/MS).

For some metabolites the lab takes in samples from all over the UK.

TMAU testing

We are the only laboratory in the UK to offer testing for Trimethylaminuria (also known as ‘Fish Odour Syndrome’). Information on testing for trimethylaminuria can be found in the Metabolic Handbook.

Tissue Culture and Enzyme Assay Service

We provide a tissue culture service for the investigation of metabolic disorders within Sheffield Children’s Hospital.

We also culture skin biopsies for metabolic investigations for other hospitals within the region and for some hospitals outside the region such as Dublin Children’s Hospital.

The service also provides a regional and national service for the investigation of fatty acid oxidation disorders, glutaryl-CoA dehydrogenase deficiency and fumarate hydratase deficiency.

The fatty acid oxidation service takes in samples from outside the UK, most notably Toronto Children’s Hospital and Dublin Children’s Hospital.

The service also provides a diagnostic assay service for a range of organic acidaemias and amino acidopathies. A prenatal diagnostic service is also available for approximately 14 disorders, although these are being increasingly superseded by molecular testing.

Molecular Genetics

There are strong and developing links with our Molecular Genetics Service. Full mutation analysis is now available for a range of fat oxidation defects, glycogen storage diseases, urea cycle defects and glutaryl-CoA dehydrogenase deficiency.

Molecular Genetics mutation analysis for peroxisomal defects includes the genes PEX1, PEX6, PEX12, PEX10 and PEX26.

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