We appreciate your feedback- 2022 User survey
Upgrade to HPLC operational and data capture software
Due to recent upgrades of our HPLC operation and data capture software, our CSF folate, CSF pterins, muscle ubiquinone, and plasma vitamin A and E, and tests are not UKAS accredited. Extension to scope is in progress.
22 July 2022
In response to the current challenging circumstances, we are currently unable to meet our quoted turn around time for laboratory testing (see user manual for individual test turn around time). So that we can continue to ensure that we are a clinically responsive laboratory service, we have created following categories:
Red clinical scenario (prioritise lab staff resource and perform this test above others)
Early intervention gives a good outcome. There is a high clinical suspicion for the disease; however, there is a risk of harm if the patient is started on treatment or has an intervention and is subsequently diagnosed negative for the disease. Knowing the results of Neurometabolic Unit testing will help inform the risk assessment of starting treatment / intervention.
Amber clinical scenario (prioritise on the next batch)
Patient to be seen in clinic soon or to be discussed at an MDT and knowing our lab result will help inform the clinical assessment / decision making / management.
Green (Routine testing)
Low clinical suspicion of disease but needs to be excluded.
1 April 2022
Since we moved location, we are having intermittent issues with the paper printing of laboratory reports. We are working with our IT team to resolve this and will update once resolved. Please bear with us and telephone (0203 448 3818) if the results are needed urgently.
Please consider signing up for secure auto e-mail of laboratory reports.
To sign up for secure auto-emailing of lab reports, please e-mail uclh.
- A generic laboratory e-mail that is regularly checked for reports to be e-mailed to, preferably nhs.net.
- Neurometabolic unit laboratory number of a previous report so we can check the source code we have on record for your lab.
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.
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 NeurometabolicUnit 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.
Neurometabolic Unit Publications 2015 -2020
Shahni R, Cale CM, Anderson G, et al. Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission. Brain. 2015;138(Pt 10):2834-2846.
Lax NZ, Alston CL, Schon K, et al. Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. J Neuropathol Exp Neurol. 2015;74(7):688-703.
Alston CL, Howard C, Oláhová M, et al. A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. J Med Genet. 2016;53(9):634-641.
Ghose A, Taylor CM, Howie AJ, Chalasani A, Hargreaves I, Milford DV. Measurement of Respiratory Chain Enzyme Activity in Human Renal Biopsy Specimens. J Clin Med. 2017;6(9):90.
Bugiardini E, Poole OV, Manole A, et al. Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease. Neurol Genet. 2017;3(3):e149.
Papandreou A, Rahman S, Fratter C, et al. Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease [published correction appears in J Inherit Metab Dis. 2018 Nov 19;:]. J Inherit Metab Dis. 2018;41(6):1275-1283.
Hargreaves IP. Biochemical Assessment and Monitoring of Mitochondrial Disease. J Clin Med. 2018;7(4):66.
Poole OV, Everett CM, Gandhi S, et al. Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1. Mitochondrion. 2019;47:294-297.
Horga A, Bugiardini E, Manole A, et al. Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy. Neurol Genet. 2019;5(2):e322.
Bugiardini E, Mitchell AL, Rosa ID, et al. MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. Hum Mol Genet. 2019;28(16):2711-2719.
Horga A, Woodward CE, Mills A, et al. Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair. Hum Genet. 2019;138(11-12):1313-1322.
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.
Kinghorn KJ, Castillo-Quan JI, Bartolome F, et al. Loss of PLA2G6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction. Brain. 2015;138(Pt 7):1801-1816.
Lear PV, González-Touceda D, Porteiro Couto B, et al. Absence of intracellular ion channels TPC1 and TPC2 leads to mature-onset obesity in male mice, due to impaired lipid availability for thermogenesis in brown adipose tissue. Endocrinology. 2015;156(3):975-986.
Hargreaves IP, Al Shahrani M, Wainwright L, Heales SJ. Drug-Induced Mitochondrial Toxicity. Drug Saf. 2016;39(7):661-674.
Kanabus M, Fassone E, Hughes SD, et al. The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome. J Inherit Metab Dis. 2016;39(3):415-426.
Tarry-Adkins JL, Fernandez-Twinn DS, Chen JH, et al. Poor maternal nutrition and accelerated postnatal growth induces an accelerated aging phenotype and oxidative stress in skeletal muscle of male rats. Dis Model Mech. 2016;9(10):1221-1229.
Al Shahrani M, Heales S, Hargreaves I, Orford M. Oxidative Stress: Mechanistic Insights into Inherited Mitochondrial Disorders and Parkinson's Disease. J Clin Med. 2017;6(11):100.
Sadeghian M, Mastrolia V, Rezaei Haddad A, et al. Mitochondrial dysfunction is an important cause of neurological deficits in an inflammatory model of multiple sclerosis. Sci Rep. 2016;6:33249.
Lambert JRA, Howe SJ, Rahim AA, Burke DG, Heales SJR. Inhibition of Mitochondrial Complex I Impairs Release of α-Galactosidase by Jurkat Cells. Int J Mol Sci. 2019;20(18):4349.
Ng X, Sadeghian M, Heales S, Hargreaves IP. Assessment of Mitochondrial Dysfunction in Experimental Autoimmune Encephalomyelitis (EAE) Models of Multiple Sclerosis. Int J Mol Sci. 2019;20(20):4975.
Keatley K, Stromei-Cleroux S, Wiltshire T, et al. Integrated Approach Reveals Role of Mitochondrial Germ-Line Mutation F18L in Respiratory Chain, Oxidative Alterations, Drug Sensitivity, and Patient Prognosis in Glioblastoma. Int J Mol Sci. 2019;20(13):3364.
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.
Ng J, Papandreou A, Heales SJ, Kurian MA. Monoamine neurotransmitter disorders--clinical advances and future perspectives. Nat Rev Neurol. 2015;11(10):567-584.
Montioli R, Paiardini A, Kurian MA, et al. The novel R347g pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency. Biochim Biophys Acta. 2016;1864(6):676-682.
Horvath GA, Demos M, Shyr C, et al. Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?. Mol Genet Metab. 2016;117(1):42-48.
Batllori M, Molero-Luis M, Ormazabal A, et al. Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC. Nat Protoc. 2017;12(11):2359-2375.
Meyer E, Carss KJ, Rankin J, et al. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia [published correction appears in Nat Genet. 2017 May 26;49(6):969]. Nat Genet. 2017;49(2):223-237.
Wassenberg T, Molero-Luis M, Jeltsch K, et al. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis. 2017;12(1):12.
Peall KJ, Ng J, Dy ME, et al. Low CSF 5-HIAA in Myoclonus Dystonia. Mov Disord. 2017;32(11):1647-1649.
Opladen T, López-Laso E, Cortès-Saladelafont E, et al. Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies [published correction appears in Orphanet J Rare Dis. 2020 Aug 5;15(1):202]. 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.
Ormazabal A, Casado M, Molero-Luis M, et al. Can folic acid have a role in mitochondrial disorders?. Drug Discov Today. 2015;20(11):1349-1354.
Manea E, Gissen P, Pope S, Heales SJ, Batzios S. Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases. JIMD Rep. 2018;39:7-12.
Pope S, Artuch R, Heales S, Rahman S. Cerebral folate deficiency: Analytical tests and differential diagnosis. J Inherit Metab Dis. 2019;42(4):655-672.
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.
Yubero D, Montero R, O'Callaghan M, et al. Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III. JIMD Rep. 2016;25:1-7.
Darin N, Reid E, Prunetti L, et al. Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. Am J Hum Genet. 2016;99(6):1325-1337.
Wilson MP, Footitt EJ, Papandreou A, et al. An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy. Anal Chem. 2017;89(17):8892-8900.
Chelban V, Wilson MP, Warman Chardon J, et al. PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation. Ann Neurol. 2019;86(2):225-240.
Yubero D, Montero R, Ramos M, et al. Determination of urinary coenzyme Q10 by HPLC with electrochemical detection: Reference values for a paediatric population. Biofactors. 2015;41(6):424-430.
Tarry-Adkins JL, Fernandez-Twinn DS, Hargreaves IP, et al. Coenzyme Q10 prevents hepatic fibrosis, inflammation, and oxidative stress in a male rat model of poor maternal nutrition and accelerated postnatal growth. Am J Clin Nutr. 2016;103(2):579-588.
Schottlaender LV, Bettencourt C, Kiely AP, et al. Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients. PLoS One. 2016;11(2):e0149557.
Yubero D, Montero R, Martín MA, et al. Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders. Mitochondrion. 2016;30:51-58.
Cornelius N, Wardman JH, Hargreaves IP, et al. Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts: Effect of coenzyme Q10 supplementation on these parameters. Mitochondrion. 2017;34:103-114.
Morel J, Hargreaves I, Brealey D, et al. Simvastatin pre-treatment improves survival and mitochondrial function in a 3-day fluid-resuscitated rat model of sepsis. Clin Sci (Lond). 2017;131(8):747-758.
Montero R, Yubero D, Salgado MC, et al. Plasma coenzyme Q10 status is impaired in selected genetic conditions. Sci Rep. 2019;9(1):793.
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.
Manole A, Jaunmuktane Z, Hargreaves I, et al. Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain. 2017;140(11):2820-2837.
Bugiardini E, Pope S, Feichtinger RG, et al. Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases. J Clin Med. 2019;8(7):991.