Anakura M, Matsuda I, Arashima S, Fukushima N, Oka Y
Am J Dis Child. 1975 Jul;129(7):858-61. doi: 10.1001/archpedi.1975.02120440074017.
Two brothers, 6 and 13 years old, had histidinemia. On the basis of clinical and biochemical observations, the younger boy was considered to have a classical type of the disease, while the older boy had an atypical form characterized by partial impairment of the skin histidase activity and a moderately prolonged half-life of blood histidine. The mother is a heterozygous carrier, while the father and sister seem to be normal.
两名兄弟,年龄分别为6岁和13岁,患有组氨酸血症。根据临床和生化观察,较年幼的男孩被认为患的是典型类型的该病,而较年长的男孩患的是非典型形式,其特征为皮肤组氨酸酶活性部分受损以及血液中组氨酸的半衰期适度延长。母亲是杂合子携带者,而父亲和妹妹似乎正常。