pISSN 2234-3806eISSN 2234-3814
Table. 4.
Final diagnosis and medical decision for positive cases
| Case No. | Age at symptom onset (months) | Major complaint | Final diagnosis | Time to result reporting (days) | Time to medical decision (days) | Treatment plan |
|---|---|---|---|---|---|---|
| P2 | 40 | Joint pain | Mucopolysaccharidosis IVA | 5 | 12 | Enzyme replacement therapy |
| P5 | 0 | NST abnormality | SCAD deficiency | 3 | 18 | Avoid fasting, frequent meals |
| P6 | 8 | Seizure | Propionic acidemia | 3 | NA |
L-carnitine, low-isoleucine/valine diet |
| P10 | 0 | NST abnormality | Hyperphenylalaninemia | 3 | 11 | Avoid unnecessary treatment, further testing |
| P14 | 0 | NST abnormality | Citrullinemia, type II | 2 | NA |
Low-carbohydrate and high-protein diet |
| P25 | 149 | LFT abnormality | MCAD deficiency | 2 | 68 | Low-fat diet, avoid fasting |
| P36 | 0 | NST abnormality | MCAD deficiency | 5 | 19 | Low-fat diet, avoid fasting |
| P40 | 0 | NST abnormality | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | 2 | NA |
L-carnitine, avoid fasting |
| P41 | 1 | Neonatal hypotonia | Congenital myasthenic syndrome | 2 | 2 | Acetylcholine esterase inhibitor, salbutamol |
| P45 | 0 | NST abnormality (incidental finding |
Alpha thalassemia | 10 | 22 | Waiting for stem cell transplantation |
| P46 | 21 | Abdominal distension | Glycogen storage disease IXa1 | 10 | 22 | Corn starch, low-fat diet, avoid fasting |
| P72 | 0 | NST abnormality | SCAD deficiency | 4 | 28 | Avoid fasting, frequent meals |
| P74 | 0 | NST abnormality | SCAD deficiency | 9 | 17 | Avoid fasting, frequent meals |
| P83 | 0 | NST abnormality | SCAD deficiency | 4 | 24 | Avoid fasting, frequent meals |
| P111 | 0 | NST abnormality | Hyperphenylalaninemia | 1 | 8 | Avoid unnecessary treatment |
*The patient was enrolled because of NST abnormality (elevated C18, C20–C24) and was diagnosed as having alpha thalassemia, unrelated to the initial NST findings. We concluded that the initial NST finding and diagnosis were incidental; †Medical action was started before the genetic diagnosis in P6, P14, and P40 based on their symptoms or NST findings.
Abbreviations: NST, neonatal screening testing; LFT, liver function testing; SCAD, short-chain acyl-CoA dehydrogenase; MCAD, medium-chain acyl-CoA dehydrogenase; NA, not applicable.
Ann Lab Med 2023;43:280~289 https://doi.org/10.3343/alm.2023.43.3.280
© Ann Lab Med