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:
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.
CSF analyte | <6 months | 6m - 1 year | 1 - 5 years | 5 years |
---|---|---|---|---|
Glycine | 2-15 | 2-10 | 2-10 | 2-10 |
Threonine | 21-115 | 12-55 | 12-55 | 12-55 |
Serine | 32-80 | 27-63 | 24-56 | 08-44 |
Alanine | 18-59 | 13-41 | 13-41 | 13-41 |
(Source: CSF amino acid reference intervals from the Cardiff Working Group, MetBioNet)
National Metabolic Biochemistry Network (MetBioNet)
British Inherited Metabolic Diseases Group
Cardiff Porphyria Service
Dr Helena Kemp, Consultant Chemical Pathologist
helena.kemp@nbt.nhs.uk
helenakemp@nhs.net
Tel: 0117 4148425
Maryam Khan, Principal Clinical Scientist
maryam.khan@nbt.nhs.uk
maryam.khan2@nhs.net
Tel: 0117 4148418
Katherine Carr, Senior Biomedical Scientist
katherine.carr@nbt.nhs.uk
katherine.carr7@nhs.net
Tel: 0117 4148430/4148346
Bryony Wright, Senior Biomedical Scientist
bryony.wright@nbt.nhs.uk
Tel: 0117 4148430/4148346
Emma Smith-Thomas, Senior Clinical Scientist
emma.smith-thomas@nbt.nhs.uk
Tel: 0117 4148427
Southwest Newborn Screening and Metabolic Biochemistry Laboratory
Pathology Sciences Building
Southmead Hospital
Westbury-on-Trym
Bristol, BS10 5NB
Telephone: 0117 4148346
NBS&MetabolicBiochemistry@nbt.nhs.uk
Opening times: 9am – 5pm Monday – Friday excluding Bank Holidays
National Metabolic Biochemistry Network includes national guidelines for investigation of inherited metabolic disorders.