PRKAG2 mutations presenting in infancy

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 un...

Full description

Saved in:
Bibliographic Details
Published in:Journal of inherited metabolic disease 2017-11, Vol.40 (6), p.823-830
Main Authors: Torok, Rachel D., Austin, Stephanie L., Phornphutkul, Chanika, Rotondo, Kathleen M., Bali, Deeksha, Tatum, Gregory H., Wechsler, Stephanie B., Buckley, Anne F., Kishnani, Priya S.
Format: Article
Language:English
Subjects:
Adolescents
AMP
AMP-activated protein kinase
AMP-Activated Protein Kinases - genetics
Biochemistry
Child, Preschool
Conduction
Female
Glycogen Storage Disease Type II - genetics
Heart diseases
Human Genetics
Humans
Hypertrophy
Infant
Infant, Newborn
Infants
Internal Medicine
Kinases
Male
Medicine
Medicine & Public Health
Metabolic Diseases
Missense mutation
Mutation
Mutation - genetics
Original Article
Pediatrics
Ventricle
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0141-8955
1573-2665
DOI:10.1007/s10545-017-0072-0