The Neurometabolic Unit is delighted to add the following tests into our scope of UKAS accreditation to ISO 15189:2022:
- Bloodspot cardiolipins (monolysocardiolipin/ cardiolipin) using an in house derived LCMS method.
- CSF Neurotransmitter (monoamine) metabolites and 5-methyltetrahydrofolate using an in house LCMS method.
- Amino acid profile analysis using uHPLC-Qda mass detection method
Partnership with Guilford Street Laboratories
To help us expand our translational research activity, the Neurometabolic Unit is part of a new partnership with Guilford Street Laboratories to help develop mitochondrial proteomics and translate this into a clinical laboratory service within the NHS. Please visit this link for more information.
We appreciated your feedback - 2024 user survey
We appreciated your feedback in our 2024 user survey.
The Neurometabolic Unit has gone live with Labnostics (NPex) performing pathway.
The Neurometabolic Unit is now using Labnostics (NPEX) and is keen to partner with other laboratories to set up a performing pathway for one of our tests (samples are sent to Neurometabolic Unit for testing and reported back via Labnostics). Please contact uclh.
Mixed leucocytes are now the preferred specimen type for white cell ubiquinone analysis.
Due to service development, mixed leucocytes are now the preferred specimen type for white cell ubiquinone analysis. Robert Winter completed a technical validation of this specimen type, which is the same populations of white cells as used for White Cell Enzymes testing for lysosomal storage diseases.
White cell ubiquinone analysis is currently a research test and validated by the laboratory but not UKAS accredited. Work towards an application for extension to scope is in progress. A poster presentation of this validation work was presented at BIMDG 2023, view the poster.
CSF Neurotransmitter metabolites and 5-methyltetrahydrofolate are now examined simultaneously using a UKAS accredited LC-MS method.
Following a thorough technical and clinical validation performed by Dr. Simon Pope, CSF Neurotransmitter metabolites and CSF 5-methyltetrahydrofolate are now examined using a multiplexed LC-MS method. Validation data for this new method was presented at BIMDG 2024, view the poster. It is no longer possible to request CSF monoamine metabolites or CSF 5-methyltetrahydrofolate in isolation.
The LCMS method that we are using to quantify monoamine metabolites and 5-methyltetrahydrofolate is also capable of looking at other related analytes on a semi-quantitative basis (the measurement and commentary on these related analytes is currently not UKAS accredited). We are hoping to validate this further and add these to our diagnostic service.
The Neurometabolic Unit is a highly specialised UKAS accredited medical laboratory No 8341 based at Queen Square. It provides a unique range of investigations and clinical laboratory advice encompassing mitochondrial, neurotransmitter, pterin and amino acid disorders. Set up in 1995, it has evolved from an academic translational research laboratory to becoming a UKAS accredited clinical laboratory service, which also provides the pathology specimen reception for National Hospital for Neurology and Neurosurgery (NHNN).
The activities of the Unit support many groups within NHNN and the wider activities of UCLH Trust. In particular, the laboratory has close clinical associations with colleagues within the Movement Disorders, Neuromuscular, Neurogenetic services and the Charles Dent Metabolic and Intensive Care Units.
On-going research programmes supplement and enhance the service provision with close collaborations with academic colleagues at UCL Queen Square Institute of Neurology and UCL Great Ormond Street Institute of Child Health.
To help us expand our translational research activity, the Neurometabolic Unit is part of a new partnership with Guilford Street Laboratories to help develop mitochondrial proteomics and translate this into a clinical laboratory service within the NHS. Please visit this link for more information.
In the genomics era, the laboratory is well placed to develop specialist testing required to elucidate the pathogenesis of genetic variants of uncertain significance. We can leverage our technical expertise in enzyme kinetics, HPLC and mass spectrometry to develop assays for research studies and with our clinical laboratory acumen, continue assay validation to develop UKAS accredited clinical laboratory services thus facilitating the bench to bedside approach to laboratory medicine.
The laboratory has close collaborations with other specialist laboratories at NHNN and in the Queen Square area. Several members of staff have honorary or joint appointments with the Dept. of Chemical Pathology at Great Ormond Street Hospital (GOSH).
The diagnostic mitochondrial biochemistry laboratory service for the NHS Rare Mitochondrial Disorders Service in London is hosted by the Neurometabolic Unit, providing mitochondrial respiratory chain enzymes (MRCE) and mitochondrial ATP Synthase (complex V) testing in tissue biopsies.
The Neurometabolic Unit is also the only laboratory in the UK to provide an accredited clinical biochemistry service for the diagnosis and monitoring of inherited neurotransmitter disorders through analysis of monoamine, pterin and other associated metabolites in CSF.
Our user manual provides contact details for the laboratory, sample requirements, a list of full current test reportoire, methodology, and reporting times. For test prices, please contact Service manager.
Patient contact
Service management
Nana Ghansah, Robert Winter
Other contact information
Address
Neurometabolic Unit
6th floor Institute of Neurology
Queen Square House
Queen Square
London WC1N 3BG
Neurometabolic Unit publications 2020 - 2025
- Salazar-Villacorta A, Spaull R, Chowdhury S, et al. Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology. Mov Disord Clin Pract. 2024; 11(9):1149-1152.
- Heales SJRH, Mckenzie D, Bhairo C, Pope SAS. (2024) ‘Biogenic Amines’, in Blau N & Vaz FM (eds.) Laboratory Guide to the Methods in Biochemical Genetics, Cham: Springer, pp. 459-473.
- Rossignoli G, Krämer K, Lugarà E, et al. Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies. Brain. 2021; 144(8):2443-2456.
- Ng J, Barral S, De La Fuente Barrigon C, et al. Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism. Sci Transl Med. 2021;13(594):eaaw1564.
- Opladen T, López-Laso E, Cortès-Saladelafont E, et al. International Working Group on Neurotransmitter related Disorders (iNTD). Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies. Orphanet J Rare Dis. 2020; 15(1):126.
- Ng J, Cortès-Saladelafont E, Abela L, et al. DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia. Mov Disord. 2020; 35(8):1357-1368.
- Belsten J, Werring DJ, Jones H, Heales S, Pope S. Cerebrospinal fluid folate, ascorbate, and tetrahydrobiopterin deficiency in superficial siderosis: A new potential mechanism of neurological dysfunction? J Neurol Sci. 2020; 414:116856.
- Toomey CE, Heywood WE, Evans JR, et al. Mitochondrial dysfunction is a key pathological driver of early stage Parkinson's. Acta Neuropathol Commun. 2022; 10(1):134.
- Kaiyrzhanov R, Mohammed SEM, Maroofian R, et al. Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement. Am J Hum Genet. 2022;109(9):1692-1712.
- Rosenberger FA, Tang JX, Sergeant K, et al. Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease. Hum Mol Genet. 2022;31(12):2049-2062.
- Forny P, Footitt E, Davison JE, et al. Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era. Neurol Genet. 2021;7(3):e597.
- Ghosh R, Wood-Kaczmar A, Dobson L et al. Expression of mutant exon 1 huntingtin fragments in human neural stem cells and neurons causes inclusion formation and mitochondrial dysfunction. FASEB J. 2020; 34(6):8139-8154.
- Keshavan N, Abdenur J, Anderson G, et al. The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency. Genet Med. 2020; 22(1):199-209.
- Bugiardini E, Bottani E, Marchet S, et al. Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations. Neurol Genet. 2020; 6(1):e381
- Poole OV, Horga A, Hardy SA, et al. Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant. Neurol Genet. 2020; 6(2):e413.
- Falabella M, Pizzamiglio C, Tabara LC, et al. Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome. Brain. 2025; 148(2):647-662.
- Nakamura Y, Shimada IS, Maroofian R, et al. Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia. Brain. 2024; 147(11):3949-3967.
- Bautista JS, Falabella M, Flannery PJ, Hanna MG, Heales SJR, Pope SAS, Pitceathly RDS. Advances in methods to analyse cardiolipin and their clinical applications. Trends Analyt Chem. 2022; 157:116808.
- Wahedi A, Sudhakar S, Lam A, et al. Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q10 Biosynthesis Disorders. Neurol Genet. 2024;10(6):e200209.
- Heaton RA, Heales S, Rahman K, Sexton DW, Hargreaves I. The Effect of Cellular Coenzyme Q10 Deficiency on Lysosomal Acidification. J Clin Med. 2020;9(6):1923.
- Burlina A, Jones SA, Chakrapani A, et al. A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes. Int J Neonatal Screen. 2022;8(2):25.
- Jones SA, Cheillan D, Chakrapani A, et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int J Neonatal Screen. 2022; 8(1):20.
- Baldwin T, Clayton P, Rutherford T, Heales S, Eaton S. SH-SY5Y cells undergo changes in peroxisomal metabolism when exposed to decanoic acid. J Neurochem. 2024;168(9):3108-3115.
- Jancovski N, Baldwin T, Orford M, et al. Protective effects of medium chain triglyceride diet in a mouse model of Dravet syndrome. Epilepsia. 2021;62(12):3131-3142.
- Carling RS, Barclay Z, Cantley N, et al. Simple steps to achieve harmonisation and standardisation of dried blood spot phenylalanine measurements and facilitate consistent management of patients with phenylketonuria. Clin Chem Lab Med. 2025; 63,7 1336-1343.
- Hällqvist J, Lane D, Shapanis A, et al. Operation Moonshot: rapid translation of a SARS-CoV-2 targeted peptide immunoaffinity liquid chromatography-tandem mass spectrometry test from research into routine clinical use. Clin Chem Lab Med. 2022;61(2):302-310.