In the routine care of newborns, the first method for bilirubin testing should be a skin test. If the skin test result exceeds 200 micromol/L and other analytes are to be determined with a nonchemical photometric device, then bilirubin can be included in this analysis and the result trusted up to 250 micromol/L. If the skin test result exceeds 200 micromol/L and only bilirubin concentrations are needed, then a standard laboratory method is the first choice, to avoid repeated blood sampling. Bilirubin concentrations from nonchemical photometric devices that exceed 250 micromol/L should be confirmed with standard laboratory methods.

Hereditary orotic aciduria is a rare metabolic disease that results from a defect of uridine-5-monophosphate synthase (UMPS). In affected patients, main clinical symptoms are a markedly increased urinary excretion of orotic acid combined with megaloblastic anemia. This report describes a new case of UMPS deficiency without megaloblastic anemia but with epilepsy.

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