Simon Pope

Simon is an analytical biochemist who has worked in the Neurometabolic Unit, University College London Hospital, for almost 20 years. The Neurometabolic Unit is an NHS diagnostic laboratory, specialising in the diagnosis and treatment monitoring of inborn and acquired disorders affecting neurotransmitter, mitochondrial, amino acid and vitamin metabolism.

Simon has worked in research during his PhD and three post-docs at UCL before moving to the Neurometabolic Unit. He has developed various assays for the laboratory, including Blue-Native Polyacrylamide Gel Electrophoresis (BN-PAGE) for the diagnosis of mitochondrial disorders, Liquid-Chromatography Mass Spectrometry (LC-MS) methods for cardiolipin in tissue homogenates/blood spots, 3-methyl dopa in blood spots and neurotransmitters and 5- methyltetrahydrofolate in cerebrospinal fluid.

As well as his involvement in clinical diagnostics, he is also a scientific advisor to ERNDIM, a worldwide external quality assurance (EQA) provider.

He has retained a strong interest in research, with many collaborators around UCL, the UK and Europe. He recently held a 3 year NIHR/MRC clinical academic research partnership grant (CARP) in collaboration with Professor Kevin Mills at the Institute of Child Health.

The use of nutraceuticals to treat neurometabolic disorders – concerns and things to be aware of

Nutraceuticals are used to treat many rare inborn errors of metabolism. For such disorders, the number of patients and potential markets are small so larger pharmaceutical companies do not typically make products or invest in research for such disorders. This has resulted in nutraceuticals, made by smaller companies and supplement suppliers, being used to treat these inborn errors of metabolism.

This presentation will discuss of the use of monoamine replacement and vitamin supplements for the treatment of patients with disorders of dopamine and serotonin metabolism. A particular focus will be on the use of 5-hydroxytryptophan, a nutraceutical used for serotonin replacement.

Patients with pterin disorders affecting dopamine and serotonin metabolism are treated with L-dopa and 5-hydroxytryptophan (a nutraceutical) and treatment is monitored by lumbar puncture. We have noted that some patients still have impaired serotonin turnover despite apparent treatment. We will discuss a patient with very low levels of 5-hydroxytryptophan and serotonin metabolite (5HIAA) in cerebrospinal fluid (CSF), despite treatment, and how this patient was further investigated. This included checking compliance via in-hospital medication, investigating factors affecting pharmacokinetics, to analysing the supplements being used. The underlying cause of the ineffective treatment was eventually found and appropriate changes made. The effectiveness of these changes was confirmed by clinical and biochemical improvement.

Various factors that could affect treatment effectiveness will be discussed and these are also applicable to the use of nutraceuticals for other conditions.