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.
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