Parsons H G, Scott R B, Pinto A, Carter R J, Snyder F F
Department of Pediatrics, Health Sciences Centre, Calgary, Alberta, Canada.
J Inherit Metab Dis. 1987;10(2):152-61. doi: 10.1007/BF01800042.
The presentation and 2 year treatment of a patient with argininosuccinic aciduria is reported. Erythrocyte argininosuccinate lyase activity was less than 2% of normal. Long-term management included protein restriction and arginine dietary supplementation. The child experienced three episodes of hyperammonaemia (greater than 100 microns), the first at birth, the second at 6.5 months and the third at 16 months. Neurological development deteriorated between 14 and 24 months. Hepatomegaly and biochemical hepatitis, a feature of this condition, was accompanied by enlarged mitochondria with tubular paracrystalline inclusions not previously recognized in this disorder.
本文报告了一名精氨琥珀酸尿症患者的临床表现及为期两年的治疗情况。红细胞精氨琥珀酸裂解酶活性低于正常水平的2%。长期治疗包括蛋白质限制和饮食中补充精氨酸。该患儿经历了三次高氨血症发作（超过100微摩尔），第一次发作于出生时，第二次在6.5个月时，第三次在16个月时。在14至24个月之间神经发育出现退化。肝肿大和生化性肝炎是该病症的一个特征，同时伴有线粒体增大，其内有管状副晶状包涵体，这在此病症中此前未被识别。
