1.
Eur J Pediatr
; 166(8): 871-4, 2007 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17043839
RESUMO
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.