Vitamin B6 Dependent Xanthurenic Aciduria (The Second Report)

作者：Keiya Tada, Yoshimasa Yokoyama, Hiroshi Nakagawa, Tsuneo Arakawa · 发表于：The Tohoku Journal of Experimental Medicine · 年份：1968 · DOI：10.1620/tjem.95.107 · 被引用次数：20 · 研究领域：Metabolism and Genetic Disorders、Folate and B Vitamins Research、Cancer, Hypoxia, and Metabolism

Another family of B6 dependent xanthurenic aciduria is reported. The results of in vivo and in vitro studies of the patients agreed with those from our previous patients of the first family.1 The view, mentioned previously, 1 that the basic defect of the disorder is the inability of an apoenzyme (kynureninase) to combine normally with the coenzyme (pyridoxal phosphate) was confirmed. Causal relationship between mental retardation and biochemical disturbance is discussed.