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Article

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

Journal of inherited metabolic disease - 1 Jan 2024

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

Abstract excerpt

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 on a life-long strict protein restriction with nontoxic amino acids oral supplementation represents an unmet need as it is...

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Share to 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
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Identifiers

PMID: 36880392
DOI: 10.1002/jimd.12604

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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