Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia

Methylmalonic Acidemia (MMA) is a heterogenous group of inborn errors of metabolism caused by a defect in the methylmalonyl‐CoA mutase (MMUT) enzyme or the synthesis and transport of its cofactor, 5′‐deoxy‐adenosylcobalamin. It is characterized by life‐threatening episodes of ketoacidosis, chronic k...

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Veröffentlicht in:	Journal of inherited metabolic disease 2023-07, Vol.46 (4), p.554-572
Hauptverfasser:	Manoli, Irini, Gebremariam, Abigael, McCoy, Samantha, Pass, Alexandra R., Gagné, Jack, Hall, Camryn, Ferry, Susan, Van Ryzin, Carol, Sloan, Jennifer L., Sacchetti, Elisa, Catesini, Giulio, Rizzo, Cristiano, Martinelli, Diego, Spada, Marco, Dionisi‐Vici, Carlo, Venditti, Charles P.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosylcobalamin Amino Acid Metabolism, Inborn Errors - complications Amino Acid Metabolism, Inborn Errors - diagnosis Amino Acid Metabolism, Inborn Errors - therapy biomarker Biomarkers clinical trial endpoint Clinical trials Dietary intake Disease Progression FGF21 GDF15 Humans Inborn errors of metabolism Ketoacidosis Kidney diseases Lipocalin Liver transplantation Metabolism Methylmalonic Acid methylmalonic acidemia Methylmalonyl-CoA Mutase - genetics Methylmalonyl-CoA Mutase - metabolism Mutation propionate oxidation Renal function stable isotope Transplants & implants
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