AI Article Synopsis

  • - We analyze a case of a 20-year-old male with an unidentified neurodegenerative disease who had a severe deficiency in nicotinamide intermediates, crucial for NAD(H) biosynthesis.
  • - Metabolic profiling tests showed that the patient's nicotinamide N-methyltransferase (NNMT) enzyme was not active during normal feeding or fasting but became functional after a specific nicotinamide intake.
  • - This case represents a unique instance of adult-onset NNMT deficiency linked to neurodegenerative disease, highlighting the role of metabolomics in identifying rare metabolic disorders.

Article Abstract

We present a case study of a 20-year-old male with an unknown neurodegenerative disease who was referred to the Undiagnosed Diseases Network Vanderbilt Medical Center site. A previous metabolic panel showed that the patient had a critical deficiency in nicotinamide intermediates that are generated during the biosynthesis of NAD(H). We followed up on these findings by evaluating the patient's ability to metabolize nicotinamide. We performed a global metabolic profiling analysis of plasma samples that were collected: (1) under normal fed conditions (baseline), (2) after the patient had fasted, and (3) after he was challenged with a 500 mg nasogastric tube bolus of nicotinamide following the fast. Our findings showed that the patient's nicotinamide N-methyltransferase (NNMT), a key enzyme in NAD(H) biosynthesis and methionine metabolism, was not functional under normal fed or fasting conditions but was restored in response to the nicotinamide challenge. Altered levels of metabolites situated downstream of NNMT and in neighboring biochemical pathways provided further evidence of a baseline defect in NNMT activity. To date, this is the only report of a critical defect in NNMT activity manifesting in adulthood and leading to neurodegenerative disease. Altogether, this study serves as an important reference in the rare disease literature and also demonstrates the utility of metabolomics as a diagnostic tool for uncharacterized metabolic diseases.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10055858PMC
http://dx.doi.org/10.3390/metabo13030399DOI Listing

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