Article

Contribution of brain intrinsic branched-chain amino acid metabolism in a novel mouse model of maple syrup urine disease

2024-08-23

Abstract excerpt

<h4>Summary</h4> Maple syrup urine disease (MSUD) results from loss of branched-chain ketoacid dehydrogenase (BCKDH) activity, the committed, rate-limiting step of branched-chain amino acid (BCAA) oxidation. Current treatments, including a low protein diet and liver transplantation, improve peripheral biochemistry and limit episodes of metabolic decompensation but do not fully prevent chronic neuropsychiatric sym...

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Literature Corpus work: 214e0413-ff2b-5328-bd48-aadbf3de2f89
DOI: 10.1101/2024.08.22.609255

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