pISSN 2234-3806eISSN 2234-3814
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
© Ann Lab Med