Literature DB >> 17043839

Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease.

Marieke Hoeksma1, Maartje Boon, Klary E Niezen-Koning, Lidy van Overbeek-van Gils, Francjan J van Spronsen.   

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.

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Year:  2006        PMID： 17043839     DOI： 10.1007/s00431-006-0315-9

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  21 in total

1.  Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease.

Authors:  K Umapathysivam; J J Hopwood; P J Meikle
Journal:  Clin Chem       Date:  2001-08       Impact factor: 8.327

2.  Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders.

Authors:  K Umapathysivam; A M Whittle; E Ranieri; C Bindloss; E M Ravenscroft; O P van Diggelen; J J Hopwood; P J Meikle
Journal:  Clin Chem       Date:  2000-09       Impact factor: 8.327

3.  Juvenile-onset acid maltase deficiency with unusual familial features.

Authors:  M J Danon; S DiMauro; S Shanske; F L Archer; A F Miranda
Journal:  Neurology       Date:  1986-06       Impact factor: 9.910

Review 4.  The natural course of non-classic Pompe's disease; a review of 225 published cases.

Authors:  Léon P F Winkel; Marloes L C Hagemans; Pieter A van Doorn; M Christa B Loonen; Wim J C Hop; Arnold J J Reuser; Ans T van der Ploeg
Journal:  J Neurol       Date:  2005-08       Impact factor: 4.849

5.  Serum alanine aminotransferase in skeletal muscle diseases.

Authors:  Rahul A Nathwani; Shireen Pais; Telfer B Reynolds; Neil Kaplowitz
Journal:  Hepatology       Date:  2005-02       Impact factor: 17.425

6.  A diagnostic protocol for adult-onset glycogen storage disease type II.

Authors:  M G Ausems; P Lochman; O P van Diggelen; H K Ploos van Amstel; A J Reuser; J H Wokke
Journal:  Neurology       Date:  1999-03-10       Impact factor: 9.910

7.  Prolonged elevation of transaminase concentration in children with unsuspected myopathy.

Authors:  K B Schwarz; G C Burris; D E deMello; J S Hyams; J A Biller; M G Maksimak; H S Winter; R J Grand
Journal:  Am J Dis Child       Date:  1984-12

Review 8.  Clinical variability in adult-onset acid maltase deficiency: report of affected sibs and review of the literature.

Authors:  K J Felice; A G Alessi; M L Grunnet
Journal:  Medicine (Baltimore)       Date:  1995-05       Impact factor: 1.889

9.  [Analysis of 12 cases of McArdle's disease diagnosed after 30 years].

Authors:  M Pavic; P Petiot; N Streichenberger; J-L Dupond; A Drouet; F Flocard; F Bouhour; J-Y Colin; P Bielefeld; M Gouttard; I Maire; J Pellat; D Vital Durand; H Rousset
Journal:  Rev Med Interne       Date:  2003-11       Impact factor: 0.728

10.  Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up.

Authors:  Léon P F Winkel; Johanna M P Van den Hout; Joep H J Kamphoven; Janus A M Disseldorp; Maaike Remmerswaal; Willem F M Arts; M Christa B Loonen; Arnold G Vulto; Pieter A Van Doorn; Gerard De Jong; Wim Hop; G Peter A Smit; Stuart K Shapira; Marijke A Boer; Otto P van Diggelen; Arnold J J Reuser; Ans T Van der Ploeg
Journal:  Ann Neurol       Date:  2004-04       Impact factor: 10.422
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