Successful treatment of severe MSUD in
                    <i>
                      Bckdhb
                      <sup>−/−</sup>
                    </i>
                    mice with neonatal AAV gene therapy

Pontoizeau, Clément; Gaborit, Clovis; Tual, Nolan; Simon‐Sola, Marcelo; Rotaru, Irina; Benoist, Marion; Colella, Pasqualina; Lamazière, Antonin; Brassier, Anaïs; Arnoux, Jean‐Baptiste; Rötig, Agnès; Ottolenghi, Chris; de Lonlay, Pascale; Mingozzi, Federico; Cavazzana, Marina; Schiff, Manuel

doi:10.1002/jimd.12604

Public

Successful treatment of severe MSUD in Bckdhb −/− mice with neonatal AAV gene therapy

Shared by NobleBlocks on Mar 15, 2023 • 12:00 AM UTC

Authors:

Clément Pontoizeau

Clovis Gaborit

Nolan Tual

Abstract

Abstract Maple syrup urine disease (MSUD) is rare autosomal recessive metabolic disorder caused by the dysfunction of the mitochondrial branched‐chain 2‐ketoacid dehydrogenase (BCKD) enzyme complex leading to massive accumulation of branched‐chain amino acids and 2‐keto acids. MSUD management, based...

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