Brain Magnetic Resonance Imaging in Organic Acidemias: A Single Center Experience

Abstract

: Background: Organic acidemias (OAs) are a group of inherited diseases with a defect of amino acid metabolism, unless treatment is initiated early in life, they cause serious central nervous system (CNS) complications as seizures, encephalopathy and others. Pre-symptomatic diagnosis is achieved within neonatal screening programs, otherwise the diagnosis is delayed and challenging. Aim of work