Pandya A L, Koch R, Hommes F A, Williams J C
Division of Medical Genetics, Childrens Hospital of Los Angeles, CA 90054.
J Inherit Metab Dis. 1991;14(5):685-90. doi: 10.1007/BF01799936.
Two male siblings presented in the first 6 weeks of life with emesis, diarrhoea, metabolic acidosis and lethargy. A male sibling had previously died at 14 months of age from liver failure of unknown aetiology. Both of the current cases had mild hyperammonaemia with normal orotic acid, organic acid and argininosuccinic acid levels. Citrulline and arginine levels were normal or mildly decreased. One of the brothers was biopsied and had no detectable N-acetylglutamate synthetase activity and normal values for other enzymes of the urea cycle in liver. Treatment with a low-protein diet and sodium benzoate/sodium phenylacetate resulted in near normal blood ammonia levels, except during viral illness. Subsequent neurological development has been normal to mildly delayed. These patients differ from those previously described with N-acetylglutamate synthetase deficiency in that their presentation and subsequent course were relatively benign.
两名男性同胞在出生后的前6周出现呕吐、腹泻、代谢性酸中毒和嗜睡症状。一名男性同胞曾在14个月大时死于病因不明的肝功能衰竭。目前的这两个病例均有轻度高氨血症，乳清酸、有机酸和精氨琥珀酸水平正常。瓜氨酸和精氨酸水平正常或轻度降低。其中一名兄弟接受了活检，肝脏中未检测到N - 乙酰谷氨酸合成酶活性，尿素循环的其他酶活性值正常。采用低蛋白饮食和苯甲酸钠/苯乙酸钠治疗后，除病毒感染期间外，血氨水平接近正常。随后的神经发育正常至轻度延迟。这些患者与先前描述的N - 乙酰谷氨酸合成酶缺乏患者不同，因为他们的临床表现和后续病程相对较轻。
