Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients

Molecular Genetics and Metabolism
Donna L BernsteinRobert J Desnick

Abstract

Pompe disease is a lysosomal storage disease due to deficient acid α-glucosidase (GAA) activity. Infants with the classic infantile-onset subtype present with severe hypotonia and cardiomegaly, and most expire in the first year of life, whereas the severity of the muscle-based manifestations in patients with the late infantile/juvenile and adult-onset subtypes depends on the level of GAA residual enzymatic activity. The clinical features of later-onset Pompe disease are still emerging, and even the natural history and progression of muscle weakness and respiratory failure, hallmarks of the later-onset subtypes, are not well documented. For example, we report here three later-onset patients who had chronic diarrhea, postprandial bloating and abdominal pain, previously unrecognized manifestations of later-onset Pompe disease. Two patients had intestinal incontinence and one reported synchronous vomiting and diarrhea on a daily basis. These symptoms significantly interfered with their quality of life, often limiting their ability to leave home. All gastrointestinal symptoms resolved within the first six months of enzyme replacement therapy (ERT) with recombinant human alglucosidase alpha (rhGAA). All three patients gained weight a...Continue Reading

References

Sep 14, 1999·European Journal of Human Genetics : EJHG·M G AusemsA T van der Ploeg
Sep 6, 2002·Pediatric Neurology·Olaf A BodamerGeorg F Hoffmann
Dec 4, 2003·Pediatric Neurology·Judy R PipoKousaku Ohno
Aug 18, 2004·Clinica Chimica Acta; International Journal of Clinical Chemistry·Néstor A ChamolesCarina Casentini
Jun 9, 2005·Molecular Genetics and Metabolism·Maryam BanikazemiRobert J Desnick
Mar 15, 2006·Annals of Neurology·Tokiko FukudaNina Raben
May 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·UNKNOWN ACMG Work Group on Management of Pompe DiseaseMichael S Watson
Sep 30, 2006·Molecular Therapy : the Journal of the American Society of Gene Therapy·Tokiko FukudaNina Raben
Jun 19, 2007·Molecular Genetics and Metabolism·Michael L HawesBeth L Thurberg
Sep 27, 2007·Muscle & Nerve·Maarten R DrostArnold J J Reuser
Apr 10, 2008·Journal of Internal Medicine·O I I SolimanM L Geleijnse
Feb 10, 2009·Dysphagia·Andrea HayesJudy Haynos
May 29, 2009·Proceedings of the National Academy of Sciences of the United States of America·Lara R DeRuisseauBarry J Byrne
Jun 3, 2009·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·T Merk

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Citations

Feb 6, 2014·Orphanet Journal of Rare Diseases·Istvan KatonaFrank Hanisch
Sep 19, 2015·Molecular Genetics and Metabolism·Harrison N JonesPriya S Kishnani
Dec 17, 2011·Muscle & Nerve·Edward J CuplerUNKNOWN AANEM Consensus Committee on Late-onset Pompe Disease
Sep 3, 2013·American Journal of Medical Genetics. Part a·Priya S KishnaniUNKNOWN Pompe Registry Boards of Advisors
Apr 29, 2014·Case Reports in Anesthesiology·I J J Dons-SinkeG P Scoones
Apr 26, 2015·Journal of the Neurological Sciences·Julio PardoAna López-Ferreiro
Apr 4, 2015·The American Journal of Case Reports·Lisa D Hobson-WebbPriya S Kishnani
Jan 22, 2013·Neuromuscular Disorders : NMD·Lisa D Hobson-WebbPriya S Kishnani
Jun 6, 2012·Molecular Genetics and Metabolism·Lisa D Hobson-WebbPriya S Kishnani
Dec 23, 2015·Arquivos de neuro-psiquiatria·Juan Clinton Llerena JuniorLineu Cesar Werneck
Jul 5, 2012·European Neurology·Gauthier RemicheGiacomo P Comi
Feb 12, 2019·Journal of Inherited Metabolic Disease·Milverton JoanneMerlin Tracy
Feb 23, 2019·Journal of Smooth Muscle Research = Nihon Heikatsukin Gakkai Kikanshi·Angela L McCallMai K Elmallah
Sep 6, 2011·Current Opinion in Neurology·Claude Desnuelle, Leonardo Salviati
Jan 1, 2015·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·S S NikitinM O Kovalchuk
Jun 7, 2018·Journal of Inherited Metabolic Disease·Joanne MilvertonTracy Merlin
Dec 5, 2018·Case Reports in Hematology·Jithma P AbeykoonRonald Go
Feb 17, 2021·Nutrition, Metabolism, and Cardiovascular Diseases : NMCD·Francesca CarubbiUNKNOWN Italian Society of Human Nutrition Working Group on Nutrition in Lysosomal Storage Diseases
Apr 23, 2021·Journal of Smooth Muscle Research = Nihon Heikatsukin Gakkai Kikanshi·Angela L McCallMai K ElMallah

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