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Article

Muscle-directed AAV gene therapy rescues the maple syrup urine disease phenotype in a mouse model.

Molecular genetics and metabolism - 1 Jan 2000

Greig Jenny A, Jennis Matthew, Dandekar Aditya, Chorazeczewski Joanna K, Smith Melanie K, Ashley Scott N, Yan Hanying, Wilson James M

Abstract excerpt

Maple syrup urine disease (MSUD) is a rare, inherited metabolic disorder characterized by a dysfunctional mitochondrial enzyme complex, branched-chain alpha-keto acid dehydrogenase (BCKDH), which catabolizes branched-chain amino acids (BCAAs). Without functional BCKDH, BCAAs and their neurotoxic alpha-keto intermediates can accumulate in the blood and tissues. MSUD is currently incurable and treatment is limited...

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Identifiers

PMID: 34454844
DOI: 10.1016/j.ymgme.2021.08.003

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