Article

Variants in glycine decarboxylase activate mechanisms of mitochondrial energy metabolism in the brain

2025-07-17

Abstract excerpt

Brain energy metabolism is produced from glucose by mitochondrial oxidative phosphorylation. Variants in the mitochondrial enzyme glycine decarboxylase (GLDC) cause a rare neurological disease, non-ketotic hyperglycinemia (NKH), with expected hallmarks of brain glycine elevation and responsiveness to folate deficiency that are equivalent to the severity of Gldc mutations. We remarkably find that brains of young-...

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Literature Corpus work: f228e995-3051-5b54-933e-71b765420eaf
DOI: 10.1101/2025.07.12.664515

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