Article

DHDDS-related juvenile parkinsonism is caused by impaired lipid metabolism, glycosylation, and mitochondrial dysfunction, which can be rescued by NAD⁺ treatment

2026-06-05

Abstract excerpt

<h4>Background</h4> Mono-allelic Dehydrodolichyl Diphosphate Synthase ( DHDDS) variants are associated with juvenile Parkinsonism, developmental delay and seizures. Symptoms are progressive, and various mechanisms, such as defective glycosylation, lysosomal dysfunction and cholesterol accumulation have been hypothesized to underlie disease symptoms. There is no treatment for DHDDS-related disease. <h4>Methods</...

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Literature Corpus work: 30c7316c-cd1d-531b-bd98-d45ca4f62105
DOI: 10.64898/2026.05.28.26354198

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