Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.

doi:10.1074/jbc.M116.747717

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Article

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.

The Journal of biological chemistry - 23 Sept 2016

Forny Patrick, Schumann Anke, Mustedanagic Merima, Mathis Déborah, Wulf Marie-Angela, Nägele Nadine, Langhans Claus-Dieter, Zhakupova Assem, Heeren Joerg, Scheja Ludger, Fingerhut Ralph, Peters Heidi L, Hornemann Thorsten, Thony Beat, Kölker Stefan, Burda Patricie, Froese D Sean, Devuyst Olivier, Baumgartner Matthias R

Abstract excerpt

Methylmalonic aciduria (MMAuria), caused by deficiency of methylmalonyl-CoA mutase (MUT), usually presents in the newborn period with failure to thrive and metabolic crisis leading to coma or even death. Survivors remain at risk of metabolic decompensations and severe long term complications, notably renal failure and neurological impairment. We generated clinically relevant mouse models of MMAuria using a...

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PMID: 27519416
DOI: 10.1074/jbc.M116.747717
PMCID: PMC5034050

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