Metabolic Biochemistry

The Metabolic Biochemistry Laboratory (previously Biochemical Genetics) at Southmead Hospital provides a regional diagnostic and monitoring service for the investigation of inherited metabolic diseases. Routine analyses performed include urine organic acids (including quantitative methylmalonic acid, if required), bloodspot/plasma acylcarnitines (including free carnitine), plasma/urine/CSF quantitative amino acids, qualitative galactosaemia screening test, plasma free fatty acids and 3-hydroxybutyrate.

In addition, the laboratory provides specialist testing for the investigation of peroxisomal disorders (plasma very long chain fatty acid analysis, including pristanic and phytanic acids), Smith-Lemli-Opitz syndrome (plasma 7-dehydrocholesterol and 8-dehydrocholesterol)

The Metabolic Biochemistry department is a Centre for Galactosemia investigations and offers a variety of tests for the diagnosis and monitoring of disorders of galactose metabolism including:

• first line galactosaemia screens,
• quantitative galactose-1-phosphate uridyltransferase activity for confirmation of classical galactosaemia;
• urine galactitol for screening and monitoring of galactokinase deficiency or screening for classical galactosaemia if infant has been transfused; 
• galactokinase activity for confirmation of galactokinase deficiency;
• galactose-1-phosphate for monitoring treatment of classical galactosaemia.

The Metabolic Biochemistry Laboratory at Southmead Hospital is a member of the UK National Metabolic Biochemistry Network (MetBioNet). 

The Metabolic Biochemistry laboratory works very closely with the Southwest Newborn Screening Laboratory to aid in the diagnostic testing to support the newborn screening programmes and monitoring of patients identified though the Inherited Metabolic Disease screening programmes. Bloodspot monitoring for PKU (Phenylalanine and tyrosine) and CAH (17-OHP) for known patients and testing for hypothyroidism on bloodspot (TSH)

We provide a comprehensive advisory service and welcome enquiries to discuss appropriate patient investigation and result interpretation. Clinical and laboratory advice is available during working hours, via contacts listed.

Details of Sample Requirements and Transport can be found under “Requesting” and “Test Information” via the menu at the top of this page.

For any urgent analyses or additional testing on samples already received, please telephone the laboratory to discuss.

(Source: CSF amino acid reference intervals from the Cardiff Working Group, MetBioNet)

User Handbook

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Useful Links

National Metabolic Biochemistry Network (MetBioNet)
British Inherited Metabolic Diseases Group
Cardiff Porphyria Service