[Thin layer chromatographic test for the indirect and direct detection of the enzyme defect in histidinemia].
A thin layer chromatographic method for the direct and indirect detection of the enzyme defect in histidineemia is described. Histidin and urocanic acid are analyzed in 0,2-1 mg stratum corneum for specific screening. 5-10 mg skin biopsy material is needed for the direct measurement of the enzyme activity. This simple metabolic test is convenient even in normal hospital laboratories.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology; D000642:Ammonia-Lyases / Q000097:blood*; D002855:Chromatography, Thin Layer; D006639:Histidine / Q000097:blood*; D006638:Histidine Ammonia-Lyase / Q000097:blood*; D006801:Humans; D012867:Skin / Q000201:enzymology; D014560:Urocanic Acid / Q000032:analysis
D006639:Histidine; D000642:Ammonia-Lyases; D006638:Histidine Ammonia-Lyase; D014560:Urocanic Acid
Indirekter und direkter dünnschichtchromatographischer Nachweis des Enzymdefektes bei der Histidinämie.