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

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

doi:10.1007/s00431-006-0315-9

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

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

14 Citations (Scopus)

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.

Original language	English
Pages (from-to)	871-874
Number of pages	4
Journal	European Journal of Pediatrics
Volume	166
Issue number	8
DOIs	https://doi.org/10.1007/s00431-006-0315-9
Publication status	Published - Aug-2007

Keywords

glycogen storage disease type II
Pompe disease
acid alpha-glucosidase
asymptomatic patients
ACID MALTASE DEFICIENCY
ALPHA-GLUCOSIDASE
NATURAL COURSE
BLOOD SPOTS
IDENTIFICATION
FREQUENCY

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@article{8b30b1030f6845f7a9b1418aff241c7f,

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.",

keywords = "glycogen storage disease type II, Pompe disease, acid alpha-glucosidase, asymptomatic patients, ACID MALTASE DEFICIENCY, ALPHA-GLUCOSIDASE, NATURAL COURSE, BLOOD SPOTS, IDENTIFICATION, FREQUENCY",

author = "Marieke Hoeksma and Maartje Boon and Niezen-Koning, {Klary E.} and {van Overbeek-van Gils}, Lidy and {van Spronsen}, {Francjan J.}",

year = "2007",

month = aug,

doi = "10.1007/s00431-006-0315-9",

language = "English",

volume = "166",

pages = "871--874",

journal = "European Journal of Pediatrics",

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T1 - Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease

AU - Hoeksma, Marieke

AU - Boon, Maartje

AU - Niezen-Koning, Klary E.

AU - van Overbeek-van Gils, Lidy

AU - van Spronsen, Francjan J.

PY - 2007/8

Y1 - 2007/8

N2 - 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.

AB - 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.

KW - glycogen storage disease type II

KW - Pompe disease

KW - acid alpha-glucosidase

KW - asymptomatic patients

KW - ACID MALTASE DEFICIENCY

KW - ALPHA-GLUCOSIDASE

KW - NATURAL COURSE

KW - BLOOD SPOTS

KW - IDENTIFICATION

KW - FREQUENCY

U2 - 10.1007/s00431-006-0315-9

DO - 10.1007/s00431-006-0315-9

M3 - Article

SN - 0340-6199

VL - 166

SP - 871

EP - 874

JO - European Journal of Pediatrics

JF - European Journal of Pediatrics

IS - 8

ER -

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

Abstract

Keywords

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