Table 2 Neonatal screening
Assay | Result | Reference range |
|---|---|---|
Neonatal screening | ||
 Thyroid-stimulating hormone (TSH) | <  10 mU/l | <  10 mU/l |
 17-OH progesterone | <  5 nmol/l | <  5 nmol/l |
 Galactose (GAL; GAL-1-P) | <  18 mg/dL | <  18 mg/dL |
 Succinylacetone | <  5 μmol/l | <  5 μmol/l |
 GAL-1-P uridyltransferase | >  20% activity | >  20% activity |
 Biotinidase | >  30% activity | >  30% activity |
Disorder of amino acid metabolism | ||
 Amino acids (including phenyl.) TMS | ||
Disorders of beta oxidation of fatty acids | ||
 MCADD | Unremarkable | |
 VLCADD | Unremarkable | |
 LCHADD | Unremarkable | |
Disorders of carnitine metabolism | ||
 Acylcarnitines. TMS | Unremarkable | |
Disorders of organic acids | ||
 Isovalerylcarnitine | Unremarkable | |
 Glutaric acid | Unremarkable | |
Defects of urea cycle | ||
 Citrulline | Unremarkable | |
 Argininosuccinate | Unremarkable | |