Abstract
PRKAG2 encodes the γ2 subunit of AMP-activated protein kinase (AMPK), which is an important regulator of cardiac metabolism. Mutations in PRKAG2 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 with PRKAG2 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 in PRKAG2. A disease-causing PRKAG2 mutation was identified in each case, with a novel missense mutation described in one patient. We highlight the potential for patients with PRKAG2 mutations to mimic Pompe disease in infancy and the need for confirmatory testing when diagnosing Pompe disease.
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R. D. Torok, S. Austin, C. Phornphutkul, K. Rotondo, D. Bali, G. Tatum, S. Wechsler, A. Buckley, and P. Kishnani declare that they have no conflict of interest.
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Torok, R.D., Austin, S.L., Phornphutkul, C. et al. PRKAG2 mutations presenting in infancy. J Inherit Metab Dis 40, 823–830 (2017). https://doi.org/10.1007/s10545-017-0072-0
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DOI: https://doi.org/10.1007/s10545-017-0072-0