Article

Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency

2023-10-12

Abstract excerpt

Branched chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a recently described inherited neurometabolic disorder of branched chain amino acid (BCAA) metabolism implying increased BCAA catabolism. It has been hypothesized that a severe reduction in systemic BCAA levels underlies the disease pathophysiology, and that BCAA supplementation may ameliorate disease phenotypes. To test this hypothesis, we charact...

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Literature Corpus work: 51ea6a5c-d5a0-5c1d-8567-16541510a2f8
DOI: 10.1101/2023.10.12.560929

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