Routine Newborn Screening for Histidinemia

Abstract

Routine Chromatographic screening of filter-paper urine specimens identified histidinemia in 20 newborn infants, or 1:20,000 in a screened population of 400,488. This relatively high incidence is similar to the 1:15,000 incidence of phenylketonuria. Though histidinemia is generally believed to be a cause of mental retardation and speech difficulties, the data accumulated so far have not conclusively shown such effects.