Monitoring Methylmalonic Aciduria by NMR Urinomics

The paper reports on monitoring methylmalonic aciduria (MMA)-specific and non-specific metabolites via NMR urinomics. Five patients have been monitored over periods of time; things involved were diet, medication and occasional episodes of failing to comply with prescribed diets. An extended dataset...

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Veröffentlicht in:	Molecules (Basel, Switzerland) Switzerland), 2020-11, Vol.25 (22), p.5312
Hauptverfasser:	Nicolescu, Alina, Blanita, Daniela, Boiciuc, Chiril, Hlistun, Victoria, Cristea, Mihaela, Rotaru, Dorina, Pinzari, Ludmila, Oglinda, Ana, Stamati, Adela, Tarcomnicu, Isabela, Tutulan-Cunita, Andreea, Stambouli, Danae, Gladun, Sergiu, Revenco, Ninel, Uşurelu, Natalia, Deleanu, Calin
Format:	Artikel
Sprache:	eng
Schlagworte:	Acids Aciduria Amino Acid Metabolism, Inborn Errors - urine Child Child, Preschool Creatinine - urine Diabetes Enzymes Female Genes Glycine - urine Humans Infant Infant, Newborn Magnetic Resonance Spectroscopy Male Medical diagnosis Metabolic disorders Metabolites Metabolomics methylmalonic acid methylmalonic aciduria Monitoring Mutation NMR NMR spectroscopy Nuclear magnetic resonance Spectrum analysis Time Factors Urine
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Zusammenfassung:	The paper reports on monitoring methylmalonic aciduria (MMA)-specific and non-specific metabolites via NMR urinomics. Five patients have been monitored over periods of time; things involved were diet, medication and occasional episodes of failing to comply with prescribed diets. An extended dataset of targeted metabolites is presented, and correlations with the type of MMA are underlined. A survey of previous NMR studies on MMA is also presented.
ISSN:	1420-3049 1420-3049
DOI:	10.3390/molecules25225312