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Neuromuscul Disord. 2016 Nov;26(11):796-800. doi: 10.1016/j.nmd.2016.09.001. Epub 2016 Sep 6.

The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study.

Author information

1
Division of Pediatric Neurology, Department of Pediatrics, Marmara University Faculty of Medicine, İstanbul, Turkey. Electronic address: olcaymd@hotmail.com.
2
Department of Pediatric Neurology, Zeynep Kamil Maternity and Children's Training and Research Hospital, İstanbul, Turkey.
3
Department of Pediatric Neurology, Medeniyet University, Göztepe Training and Research Hospital, İstanbul, Turkey.
4
Division of Pediatric Neurology, Department of Pediatrics, Kocaeli University Faculty of Medicine, İstanbul, Turkey.
5
Division of Pediatric Neurology, Department of Pediatrics, Marmara University Faculty of Medicine, İstanbul, Turkey.

Abstract

The aim of this multicenter study was to screen for late-onset Pompe disease in high-risk children with limb-girdle muscle weakness and nonspecific hyperCKemia using the dried blood spot (DBS) test. Seventy-two children from four pediatric neurology departments in Turkey were enrolled in the study: 37 with limb-girdle muscle weakness and 35 with nonspecific hyperCKemia. Acid α-glucosidase (GAA) activity was measured on DBS by tandem mass spectrometry. Six patients tested positively for Pompe disease. In three patients, one with the limb-girdle muscle weakness and two with nonspecific hyperCKemia, this was confirmed by genetic analysis. The overall frequency of late-onset Pompe disease in the study population was 4.2%. The c.1784C>T mutation found in one patient is a new mutation whereas the c.1655T>C mutation detected in the other two patients is not novel. In conclusion, Pompe disease should be suspected in patients with limb-girdle muscle weakness and nonspecific hyperCKemia. The DBS test is a safe and reliable method of diagnosis but must be confirmed by genetic analysis. In patients with a positive DBS test and negative genetic analysis, tissue assay of GAA should be considered.

KEYWORDS:

Dried blood spots; Enzyme replacement therapy; HyperCKemia; Late-onset Pompe disease; Limb-girdle muscle weakness

PMID:
27666774
DOI:
10.1016/j.nmd.2016.09.001
[Indexed for MEDLINE]

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