Fletcher J M, Couper R, Moore D, Coxon R, Dorney S
Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, Australia.
J Inherit Metab Dis. 1999 Jun;22(5):581-6. doi: 10.1023/a:1005561509704.
Arginosuccinic acid synthetase (ASA) (EC 6.3.4.5) deficiency (citrullinaemia) (McKusick 215700) is a well-recognized cause of neonatal hyperammonaemic coma with poor long-term intellectual function, despite good medical management.
Cadaveric hepatic transplantation was performed in a 12-year-old boy with citrullinaemia under poor biochemical control. Subsequent development of fulminant hepatic failure necessitated a second cadaveric transplant. Psychometric assessments before and after transplantation were performed using a variety of age-appropriate tests.
Normalization of plasma ammonium in our patient post transplantation has resulted in dramatic improvement in mental functioning and well-being and he now enjoys a normal diet. Psychometric assessment confirmed decline in his abilities prior to transplantation with particular post-transplantation improvement in perceptual organization and visuospatial abilities; these did not, however, return to normal. His family report considerable reduction in stress associated with the unpredictable nature of previous hyperammonaemic crises and recurrent hospitalization.
Liver transplantation should be considered as an early therapeutic option in children with citrullinaemia to prevent ongoing cerebral insult associated with hyperammonaemia.
精氨琥珀酸合成酶（ASA）（EC 6.3.4.5）缺乏症（瓜氨酸血症）（麦库西克编号215700）是新生儿高氨血症昏迷的一个公认病因，即便经过良好的医疗管理，长期智力功能仍较差。
对一名生化指标控制不佳的12岁瓜氨酸血症男孩进行了尸体肝移植。随后爆发的暴发性肝衰竭使得必须进行第二次尸体肝移植。移植前后使用了各种适合其年龄的测试进行心理测量评估。
我们的患者移植后血浆铵水平恢复正常，精神功能和健康状况得到显著改善，现在饮食正常。心理测量评估证实，他在移植前能力有所下降，移植后在知觉组织和视觉空间能力方面有特别改善；然而，这些能力并未恢复正常。他的家人报告说，与之前高氨血症危机的不可预测性和反复住院相关的压力大幅减轻。
对于瓜氨酸血症患儿，应考虑将肝移植作为早期治疗选择，以防止与高氨血症相关的持续脑损伤。
