title: Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease.
abstract: An asymptomatic boy, aged 1.5 years, was referred with presumed liver disease because of persistently increased transaminase. Ultimately Pompe disease was confirmed, without specific abnormalities in muscle biopsy. This case demonstrates that increased transaminases do not always suggest liver disease. It is hard to determine prognosis and to decide whether enzyme replacement therapy should be started in asymptomatic patients with Pompe disease.
authors.affiliation: Section of Metabolic Diseases, Department of Paediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, 9700 RB, Groningen, The Netherlands. M.Hoeksma@bkk.umcg.nl
authors.forename: Marieke
authors.initials: M
authors.lastname: Hoeksma
authors.forename: Maartje
authors.initials: M
authors.lastname: Boon
authors.forename: Klary E
authors.initials: KE
authors.lastname: Niezen-Koning
authors.forename: Lidy
authors.initials: L
authors.lastname: van Overbeek-van Gils
authors.forename: Francjan J
authors.initials: FJ
authors.lastname: van Spronsen
mesh_terms: D000410:Alanine Transaminase / Q000097:blood*; D001219:Aspartate Aminotransferases / Q000097:blood*; D003402:Creatine Kinase / Q000097:blood; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency*; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000201:enzymology; D006801:Humans; D007223:Infant; D008297:Male
chemical_list: D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase; D003402:Creatine Kinase; D005087:Glucan 1,4-alpha-Glucosidase