Neonatal MCAD deficiency can present with a tachycardiomyopathy-like phenotype that is reversible with prompt metabolic treatment.
Early diagnosis and prompt initiation of metabolic treatment are essential to reverse potentially life-threatening cardiac manifestations in MCADD. This report highlights a novel phenotype and expands the clinical spectrum of neonatal-onset MCADD.
Morana et al. (Tue,) studied this question.