Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease.
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.
Hoeksma
Marieke
M
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
Boon
Maartje
M
Niezen-Koning
Klary E
KE
van Overbeek-van Gils
Lidy
L
van Spronsen
Francjan J
FJ
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
D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase; D003402:Creatine Kinase; D005087:Glucan 1,4-alpha-Glucosidase