Article
Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.
Nature communications - 7 Jun 2022
Pontoizeau Clément, Simon-Sola Marcelo, Gaborit Clovis, Nguyen Vincent, Rotaru Irina, Tual Nolan, Colella Pasqualina, Girard Muriel, Biferi Maria-Grazia, Arnoux Jean-Baptiste, Rötig Agnès, Ottolenghi Chris, de Lonlay Pascale, Mingozzi Federico, Cavazzana Marina, Schiff Manuel
Abstract excerpt
Maple syrup urine disease (MSUD) is a rare recessively inherited metabolic disorder causing accumulation of branched chain amino acids leading to neonatal death, if untreated. Treatment for MSUD represents an unmet need because the current treatment with life-long low-protein diet is challenging to maintain, and despite treatment the risk of acute decompensations and neuropsychiatric symptoms remains. Here, based...
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