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Table 2 Neonatal screening

From: Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report

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
  1. act, Gal-1-P galactose-1-phosphate, LCHADD long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, MCADD medium-chain acyl-CoA dehydrogenase deficiency, phenyl phenylalanine, TMS tandem mass spectrometry, VLCADD very long-chain acyl-CoA dehydrogenase deficiency