Measurement of the skin urocanic acid content in normal and histidinemic infants.
The urocanic acid content of the skin was measured photometrically in a large number of normal and histidinemic infants. A very high content was demonstrated in the normal newborn infants, followed by a rapid decrease throughout early infancy. In contrast, 36 measurements in 17 infants with histidinemia revealed a much lower content even in their newborn periods. Thus, the quantification of skin urocanic acid was considered to be simple and useful for confirming the diagnosis of histidinemia, especially in a neonatal mass-screening program.
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006639:Histidine / Q000097:blood*; D006801:Humans; D007093:Imidazoles / Q000032:analysis*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010783:Photometry; D012016:Reference Values; D012867:Skin / Q000032:analysis*; D014560:Urocanic Acid / Q000032:analysis*
D007093:Imidazoles; D006639:Histidine; D014560:Urocanic Acid