Pullon D H
Waikato Hospital, Hamilton.
N Z Med J. 1988 Jan 27;101(838):10-1.
Cystathionine beta synthase deficiency homocystinuria is a heritable disorder most common in those of Irish descent. Therapy may prevent intellectual deficiency and dislocation of the ocular lenses. A female with this condition treated from the neonatal period to late adolescence is reported, including the use of betaine and antithrombotic drugs in management.
胱硫醚β合酶缺乏型同型胱氨酸尿症是一种遗传性疾病，在爱尔兰裔人群中最为常见。治疗可预防智力缺陷和晶状体脱位。本文报道了一名患有这种疾病的女性，从新生儿期到青春期后期均接受治疗，包括在治疗中使用甜菜碱和抗血栓药物。
