Ontology highlight
ABSTRACT:
SUBMITTER: Rossi C
PROVIDER: S-EPMC7277087 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
Rossi Claudia C Cicalini Ilaria I Rizzo Cristiano C Zucchelli Mirco M Consalvo Ada A Valentinuzzi Silvia S Semeraro Daniela D Gasparroni Giorgia G Brindisino Patrizia P Gazzolo Diego D Dionisi-Vici Carlo C De Laurenzi Vincenzo V Pieragostino Damiana D
International journal of environmental research and public health 20200520 10
Methylmalonic Acidurias (MMAs) are a group of inborn errors of metabolism (IEMs), specifically of propionate catabolism characterized by gastrointestinal and neurometabolic manifestations resulting from a deficiency in the function of methylmalonyl-CoA mutase, methylmalonyl-CoA epimerase, and cobalamin metabolism. In Expanded Newborn Screening (NBS), increased levels of propionylcarnitine (C3) and/or of its ratios by MS/MS analysis of dried blood spots (DBS) samples are suggestive for either Pro ...[more]