Epigenomic profiling of fibroblasts from patients with Maple Syrup Urine Disease (MSUD) or control samples

ABSTRACT: Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder characterised by deficient activity of the branched-chain alpha-ketoacid dehydrogenase complex, required to metabolise the amino acids leucine, isoleucine and valine. Despite its profound metabolic implications, the molecular alterations underlying this metabolic impairment had not yet been elucidated. Here we performed a comprehensive epigenomic analysis including fibroblasts derived from a cohort of MSUD patients (9) and unaffected controls (5) using the Infinium HumanMethylation EPIC platform.

ORGANISM(S): Homo sapiens

SUBMITTER: Mario Fraga F. 

PROVIDER: E-MTAB-13822 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress