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Table. 4.

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

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