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Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.

dc.contributor.author Austin, SL
dc.contributor.author Case, Laura Elizabeth
dc.contributor.author Chiou, A
dc.contributor.author Govendrageloo, K
dc.contributor.author Hansen, P
dc.contributor.author Kishnani, Priya Sunil
dc.contributor.author Sun, Baodong
dc.coverage.spatial United States
dc.date.accessioned 2017-07-24T14:33:14Z
dc.date.available 2017-07-24T14:33:14Z
dc.date.issued 2017-01
dc.identifier https://www.ncbi.nlm.nih.gov/pubmed/27692944
dc.identifier S1096-7192(16)30283-9
dc.identifier.uri https://hdl.handle.net/10161/15079
dc.description.abstract OBJECTIVE: PRKAG2 syndrome, an autosomal dominant disorder, is characterized by severe infantile hypertrophic cardiomyopathy and heart rhythm disturbances to cases with a later presentation and a spectrum of manifestations including cardiac manifestations, myopathy and seizures. The cardiac features of PRKAG2 resemble the cardiac manifestations of Pompe disease. We present a patient who was initially diagnosed with Pompe disease and treated with alglucosidase-alfa enzyme replacement therapy (ERT); however, he was eventually diagnosed to carrying a PRKAG2 pathogenic gene mutation; he did not have Pompe disease instead he was a carrier for the common adult leaky splice site mutation in the GAA gene. CASE REPORT: At 2.5months, the patient had hypotonia/generalized muscle weakness, a diagnosis of non-classic infantile Pompe disease was made based on low acid alpha-glucosidase activity and the patient started on ERT at 11months. However, 1month later, the patient began to have seizures. As the patient's medical history was somewhat unusual for infantile Pompe disease, further evaluation was initiated and included a glycogen storage disease sequencing panel which showed that the patient had a pathogenic mutation in PRKAG2 which had been reported previously. ERT was discontinued and patient had a progression of motor deficits. ERT was reinitiated by the treating physician, and a clinical benefit was noted. CONCLUSION: This report outlines the benefits of ERT with alglucosidase alfa in a patient with PRKAG2 syndrome, the decline in his condition when the ERT infusions were discontinued, and the significant positive response when ERT was reinitiated.
dc.language eng
dc.relation.ispartof Mol Genet Metab
dc.relation.isversionof 10.1016/j.ymgme.2016.09.006
dc.subject AMP-activated protein kinase
dc.subject Acid alpha-glucosidase
dc.subject Cardiomyopathy
dc.subject Glycogen storage disease
dc.subject PRKAG2
dc.title Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.
dc.type Journal article
pubs.author-url https://www.ncbi.nlm.nih.gov/pubmed/27692944
pubs.begin-page 96
pubs.end-page 100
pubs.issue 1-2
pubs.organisational-group Clinical Science Departments
pubs.organisational-group Duke
pubs.organisational-group Duke Clinical Research Institute
pubs.organisational-group Institutes and Centers
pubs.organisational-group Orthopaedics
pubs.organisational-group Orthopaedics, Physical Therapy
pubs.organisational-group Pediatrics
pubs.organisational-group Pediatrics, Medical Genetics
pubs.organisational-group School of Medicine
pubs.publication-status Published
pubs.volume 120
dc.identifier.eissn 1096-7206


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