The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study.
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.
Division of Pediatric Neurology, Department of Pediatrics, Marmara University Faculty of Medicine, İstanbul, Turkey. Electronic address: olcaymd@hotmail.com.
Olcay
O
Ünver
Department of Pediatric Neurology, Zeynep Kamil Maternity and Children's Training and Research Hospital, İstanbul, Turkey.
Nilüfer Eldeş
NE
Hacıfazlıoğlu
Department of Pediatric Neurology, Medeniyet University, Göztepe Training and Research Hospital, İstanbul, Turkey.
Elif
E
Karatoprak
Division of Pediatric Neurology, Department of Pediatrics, Kocaeli University Faculty of Medicine, İstanbul, Turkey.
Ayfer Sakarya
AS
Güneş
Division of Pediatric Neurology, Department of Pediatrics, Marmara University Faculty of Medicine, İstanbul, Turkey.
Güneş
G
Sağer
Division of Pediatric Neurology, Department of Pediatrics, Marmara University Faculty of Medicine, İstanbul, Turkey.
Büşra
B
Kutlubay
Department of Pediatric Neurology, Medeniyet University, Göztepe Training and Research Hospital, İstanbul, Turkey.
Gülhan
G
Sözen
Department of Pediatric Neurology, Medeniyet University, Göztepe Training and Research Hospital, İstanbul, Turkey.
Sema
S
Saltık
Department of Pediatric Neurology, Medeniyet University, Göztepe Training and Research Hospital, İstanbul, Turkey.
Kutluhan
K
Yılmaz
Division of Pediatric Neurology, Department of Pediatrics, Kocaeli University Faculty of Medicine, İstanbul, Turkey.
Bülent
B
Kara
Division of Pediatric Neurology, Department of Pediatrics, Marmara University Faculty of Medicine, İstanbul, Turkey.
Dilşad
D
Türkdoğan
D000293:Adolescent; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood*; D059788:Dried Blood Spot Testing; D005260:Female; D005820:Genetic Testing; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D009154:Mutation; D012306:Risk; D014421:Turkey; D000520:alpha-Glucosidases / Q000235:genetics*
D003402:Creatine Kinase; C509951:GAA protein, human; D000520:alpha-Glucosidases
Dried blood spots; Enzyme replacement therapy; HyperCKemia; Late-onset Pompe disease; Limb-girdle muscle weakness