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 the...

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Bibliographic Details
Published inOrvosi hetilap Vol. 130; no. 41; p. 2195
Main Authors Havass, Z, Tóth, E
Format Journal Article
LanguageHungarian
Published Hungary 08.10.1989
Subjects
Histidine - blood
Humans
Hungary
Infant, Newborn - blood
Mass Screening
Hungary
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Summary: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.
ISSN:0030-6002