Thin layer chromatographic test for the indirect and direct detection of the enzyme defect in histidinemia
Mönch, E.; Weissenbach-Wollweber, M.; Jäckel, R.
Monatsschrift Kinderheilkunde Organ der Deutschen Gesellschaft für Kinderheilkunde 131(2): 90-92
1983
ISSN/ISBN: 0026-9298 PMID: 6843563 Document Number: 199343
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.