Gene expression profiling of patient-derived fibroblasts with Maple Syrup Urine Disease (MSUD)
Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder characterized by deficient activity of the branched-chain alpha-ketoacid dehydrogenase (BCKD) complex, required to metabolize the amino acids leucine, isoleucine and valine. Despite its profound metabolic implications, the molecular alterations underlying this metabolic impairment had not yet been elucidated. We performed a comprehensive transcriptomic analysis on fibroblasts derived from a cohort of MSUD patients and unaffected controls to unravel the pathophysiology of MSUD.
- Type: RNASeq
- Archiver: European Genome-Phenome Archive (EGA)
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Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.
J Inherit Metab Dis 48: 2025 e12829 |
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