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

• DOI: 10.1016/j.nmd.2016.09.001
• Publication Date: 2016-09-10T00:10:46Z
• Authors: Olcay Ünver; Nilüfer Eldeş Hac...; Elif Karatoprak; Ayfer Sakarya Güneş; Güneş Sağer; Büşra Kutlubay; Gülhan Sözen; Sema Saltık; Kutluhan Yılmaz; Bülent Kara; Dilşad Türkdoğan
• Keywords: Proximal muscle weakness; Limb-girdle muscular dystrophy; Muscle weakness; Congenital myasthenic syndrome

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.