Pieniazek D, Kubalska J, Pronicka E, Stecko E
Acta Anthropogenet. 1985;9(1-3):117-21.
Catabolism of histidine was investigated in 24 patients with different speech and language disorders and with significantly low histidase activity in stratum corneum. No classical histidinemia was found. Biochemical investigation of these patients after loading with L-histidine led to the conclusions that low histidase activity in stratum corneum was connected with: disturbances in folic acid metabolism (2 cases); "atypical histidinemia" (1 case); heterozygotes of histidinemia (2 cases); normal liver histidine metabolism but abnormal in other tissues (18 cases); previously unknown error of histidine metabolism (1 case).
对24名患有不同言语和语言障碍且角质层中组氨酸酶活性显著降低的患者的组氨酸分解代谢进行了研究。未发现典型的组氨酸血症。对这些患者给予L-组氨酸负荷后的生化研究得出以下结论:角质层中组氨酸酶活性降低与以下情况有关:叶酸代谢紊乱(2例);“非典型组氨酸血症”(1例);组氨酸血症杂合子(2例);肝脏组氨酸代谢正常但其他组织异常(18例);先前未知的组氨酸代谢错误(1例)。