PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
Catia CavicchiAbderrahim OussalahSilvia FallianoLorenzo FerriAlessia GozziniSerena GasperiniSerena MottaMiriam RigoldiGiancarlo ParentiAlbina TummoloConcetta MeliFrancesca MenniFrancesca FurlanMarta DaniottiSabrina MalvagiaGiancarlo la MarcaCéline CheryPierre-Emmanuel MorangeDavid TregouetMaria Alice DonatiRenzo GuerriniJean-Louis GuéantAmelia MorronePublished in: Clinical epigenetics (2021)
We provide evidence that epi-cblC is an underestimated cause of inborn errors of cobalamin metabolism and describe the first instance of epi-cblC due to a bi-allelic MMACHC epimutation. MMACHC epimutation/PRDX1 mutation analyses should be part of routine genetic testing for all patients presenting with a metabolic phenotype that combines methylmalonic aciduria and homocystinuria.