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.
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