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Table. 2.

Table. 2.

Demographics of the prospectively enrolled patients

Variable Total patients, N (%) (N=111)
Male : Female 58 : 53
Age at symptom/sign recognition
≤ 1 month 83 (74.8)
1–12 months 10 (9.0)
> 12 months 18 (16.2)
Age at testing
≤ 1 month 55 (49.5)
1–12 months 23 (20.7)
> 12 months 33 (29.7)
Major symptoms
Asymptomatic
NST abnormality 57 (51.4)
LFT abnormality 5 (4.5)
CPK elevation 3 (2.7)
Acidosis 2 (1.8)
Other laboratory abnormalities 3 (2.7)
Symptomatic
Neonatal hypotonia/respiratory failure 14 (12.6)
Early-onset seizures 3 (2.7)
Developmental delay and additional findings 10 (9.0)
Joint pain/skeletal abnormality 5 (4.5)
Others 9 (8.1)

Abbreviations: NST, neonatal screening testing; LFT, liver function testing; CPK, creatine phosphokinase.

Ann Lab Med 2023;43:280~289 https://doi.org/10.3343/alm.2023.43.3.280

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