Article
In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria.
Biochimica et biophysica acta. Molecular basis of disease - 1 Mar 2020
Lucienne Marie, Aguilar-Pimentel Juan Antonio, Amarie Oana V, Becker Lore, Calzada-Wack Julia, da Silva-Buttkus Patricia, Garrett Lillian, Hölter Sabine M, Mayer-Kuckuk Philipp, Rathkolb Birgit, Rozman Jan, Spielmann Nadine, Treise Irina, Busch Dirk H, Klopstock Thomas, Schmidt-Weber Carsten, Wolf Eckhard, Wurst Wolfgang, Forny Merima, Mathis Déborah, Fingerhut Ralph, Froese D Sean, Gailus-Durner Valerie, Fuchs Helmut, de Angelis Martin Hrabě, Baumgartner Matthias R
Abstract excerpt
Isolated methylmalonic aciduria (MMAuria) is primarily caused by deficiency of methylmalonyl-CoA mutase (MMUT or MUT). Biochemically, MUT deficiency results in the accumulation of methylmalonic acid (MMA), propionyl-carnitine (C3) and other metabolites. Patients often exhibit lethargy, failure to thrive and metabolic decompensation leading to coma or even death, with kidney and neurological impairment frequently...
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