同一家庭中出现的急性新生儿和良性瓜氨酸血症。
Acute neonatal and benign citrullinaemia in one sibship.
作者信息
Burgess E A, Oberholzer V G, Semmens J M, Stern J
出版信息
Arch Dis Child. 1978 Feb;53(2):179-82. doi: 10.1136/adc.53.2.179.
Abstract
Citrullinaemia was diagnosed in an infant who died at age 8 days. The clinical picture was of the disease in its acute neonatal form. A sib has a blood citrulline of 100 times normal and about 10% of normal argininosuccinic acid synthetase activity in cultured fibroblasts. Clinically he is normal with an IQ of 94 on the Wechsler Intelligence Scale for Children.
摘要
一名8日龄死亡的婴儿被诊断为瓜氨酸血症。临床症状表现为急性新生儿型疾病。其同胞的血瓜氨酸水平为正常的100倍，培养的成纤维细胞中精氨琥珀酸合成酶活性约为正常的10%。临床上该同胞表现正常，在韦氏儿童智力量表上的智商为94。
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