Metabolites · 10 authors, 3 centres
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This case study evaluated a 20-year-old male with an unknown neurodegenerative disease using metabolic profiling and found his nicotinamide N-methyltransferase (NNMT) enzyme was non-functional at baseline but could be restored with a nicotinamide challenge.
The study describes a 20-year-old male with an undiagnosed neurodegenerative disease. Metabolic profiling was performed on plasma samples collected under normal fed, fasting, and post-nicotinamide challenge conditions. The central finding was that the patient's nicotinamide N-methyltransferase (NNMT) enzyme was not functional at baseline or when fasting, but its activity was restored following the nicotinamide challenge, as evidenced by the normalization of metabolites 1-methylnicotinamide and methionine. Other metabolite alterations supported a baseline defect in NNMT activity. This is noted as the first reported case of a critical NNMT defect manifesting in adulthood and leading to neurodegenerative disease. Limitations include the lack of metabolic profiling of muscle tissue or cerebrospinal fluid, and the inability to determine if the metabolic error was inborn or acquired. The study highlights metabolomics as a useful diagnostic tool for uncharacterized metabolic diseases.
