[Mass screening of neonates for histidinemia]

The authors report on newborn mass-screening for histidinemia by Guthrie bacterium inhibition assay. 51,618 newborns were screened and 805 cases with more than 5 mg% histidine blood level were found. A second test, urocanic acid thin-layer chromatography was done from these samples. According to these tests no histidinemic patient was detected. It is worth mentioning that blood histidine level exceeded 20 mg% in 55 cases from 805 newborns. Considering our screening results, the low incidence and the relatively good prognosis of the disease, a mass-screening in Hungary is not necessary.