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Table 1 Newborn screening tests

From: Peripheral neuropathy as a very rare symptom in a patient with Niemann–Pick type C with negative enzymatic evaluation: a case report

Newborn screening tests Results Normal range Unit
Neonatal screening
 AST 75 26–75 U/L
 ALT 27 11–46 U/L
 ALP 178 25–500 U/L
 Bill 7.5 3–17 µmol/L
 PT 12 11–14 Seconds
 PTT 30 25–40 Seconds
 Chol 192 158.8 ± 44 mg/dL
 TG 180 136.9 ± 97 mg/dL
 Serum ammonia 25 15–45 m/dL
 Serum lactate 1/5 0.5–2.2 mmol/L
 Hgb Unremarkable 13.7–20.1 g/dL
 TSH < 10 < 10 mU/L
 17-OH progesterone < 15 < 15 ng/dL
 Galactose < 15 < 15 mg/dL
 Galactose 1-P-uridyl transferase > 20 > 20 %Activity
 Biotinidase < 5 < 5 %Activity
 Succinylacetone > 30 > 30 µmol/L
Disorders of amino acid metabolism
 Arginosuccinase 0.5 < 1.5 µmol/L
 Leucine + isoleucine 113 < 300 µmol/L
 Valine 70 < 250 µmol/L
 Citruline 8 < 60 µmol/L
 Methionine 19 8–100 µmol/L
 Phenylalanine 29 < 150 µmol/L
 Tyrosine 36 < 125 µmol/L
Disorders of beta oxidation of fatty acids
 MCADD, VLCADD, LCHADD Unremarkable
Disorders of carnitine metabolism
 Acyl carnitines Unremarkable
Disorders of organic acids
 Isovalerylcarnitine Unremarkable
 Glutaric acid Unremarkable
 Defects of urea cycles
 Citrulline Unremarkable
 Argininosuccinate Unremarkable
 Acid sphingomyelinase deficiency
 Acid sphingomyelinasea 449 200–3500 pmol/spct 20 h
Beta-galactosidase deficiency
 Beta-galactosidasea 542.5 200–500 nmol/spct 21 h
Acid β-glucosidase (Gaucher Disease)
 Acid β-glucosidasea 0.79 0.5–3.5 pmol/spct 20 h
  1. AST Aspartate aminotransferase; ALT Alanine aminotransferase; ALP Alkaline phosphatase; Bill Bilirubin; PT prothrombin time; PTT Partial thromboplastin time; Chol Cholesterol; TG Triglyceride; Hgb Hemoglobin; TSH Thyroid-stimulating hormone; MCADD Medium-chain acyl-CoA dehydrogenase deficiency; VLCADD Very-long-chain acyl-CoA dehydrogenase deficiency; LCHADD Long-chain 3-hydroxy acyl-CoA dehydrogenase
  2. aLysosomal enzymes from dried blood