PRKAG2 mutations presenting in infancy

AbstractPRKAG2 encodes the γ2 subunit of AMP-activated protein kinase (AMPK), which is an important regulator of cardiac metabolism. Mutations inPRKAG2 cause a cardiac syndrome comprising ventricular hypertrophy, pre-excitation, and progressive conduction-system disease, which is typically not diagnosed until adolescence or young adulthood. However, significant variability exists in the presentation and outcomes of patients withPRKAG2 mutations, with presentation in infancy being underrecognized. The diagnosis of PRKAG2 can be challenging in infants, and we describe our experience with three patients who were initially suspected to have Pompe disease yet ultimately diagnosed with mutations inPRKAG2. A disease-causingPRKAG2 mutation was identified in each case, with a novel missense mutation described in one patient. We highlight the potential for patients withPRKAG2 mutations to mimic Pompe disease in infancy and the need for confirmatory testing when diagnosing Pompe disease.
Source: Journal of Inherited Metabolic Disease - Category: Internal Medicine Source Type: research