Table 3.

Inborn Errors of Metabolism Associated With Neonatal Liver Disease and Laboratory Studies Useful in Diagnosis

DisorderLaboratory StudiesReferences
GalactosemiaUrine reducing substances; RBC galactose-1-phosphate uridyl transferase13
Hereditary tyrosinemiaPlasma quantitative amino acids; urine succinylacetone14
α1-Antitrypsin deficiencyQuantitative serum α1-antitrypsin; protease inhibitor typing15
Neonatal hemochromatosisSerum ferritin; liver biopsy16
Zellweger syndromePlasma very long-chain fatty acids17
Niemann–Pick disease type CSkin biopsy for fibroblast culture; studies of cholesterol esterification and accumulation18
GSD type IV (brancher deficiency)Liver biopsy for histology and biochemical analysis or skin biopsy with assay of branching enzyme in cultured fibroblasts19