Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.
OBJECTIVE
Pompe disease is an autosomal recessive lysosomal storage disorder that is caused by deficient acid alpha-glucosidase activity and results in progressive, debilitating, and often life-threatening symptoms involving the musculoskeletal, respiratory, and cardiac systems. Recently, enzyme replacement therapy with alglucosidase alpha has become possible, but the best outcomes in motor function have been achieved when treatment was initiated early. The aim of this study was to test the feasibility of screening newborns in Taiwan for Pompe disease by using a fluorometric enzymatic assay to determine acid alpha-glucosidase activity in dried blood spots.


METHODS
We conducted a large-scale newborn screening pilot program between October 2005 and March 2007. The screening involved measuring acid alpha-glucosidase activity in dried blood spots of approximately 45% of newborns in Taiwan. The unscreened population was monitored as a control.


RESULTS
Of the 132 538 newborns screened, 1093 (0.82%) repeat dried blood-spot samples were requested and retested, and 121 (0.091%) newborns were recalled for additional evaluation. Pompe disease was confirmed in 4 newborns. This number was similar to the number of infants who received a diagnosis of Pompe disease in the control group (n = 3); however, newborn screening resulted in an earlier diagnosis of Pompe disease: patients were <1 month old compared with 3 to 6 months old in the control group.


CONCLUSIONS
To our knowledge, this is the first large-scale study to show that newborn screening for Pompe disease is feasible. Newborn screening allows for earlier diagnosis of Pompe disease and, thus, for assessment of the value of an earlier start of treatment.
Department of Pediatrics, National Taiwan University Hospital, National Taiwan University School of Medicine, Taipei, Taiwan.
Yin-Hsiu
YH
Chien
Shu-Chuan
SC
Chiang
Xiaokui Kate
XK
Zhang
Joan
J
Keutzer
Ni-Chung
NC
Lee
Ai-Chu
AC
Huang
Chun-An
CA
Chen
Mei-Hwan
MH
Wu
Pei-Hsin
PH
Huang
Fu-Jen
FJ
Tsai
Yuan-Tsong
YT
Chen
Wuh-Liang
WL
Hwu
D000465:Algorithms; D004796:Clinical Enzyme Tests / Q000379:methods*; D005240:Feasibility Studies; D005470:Fluorometry; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods*; D013624:Taiwan; D000520:alpha-Glucosidases / Q000097:blood*
C509951:GAA protein, human; D000520:alpha-Glucosidases