Acute neonatal and benign citrullinaemia in one sibship. Issue 2 (February 1978)

• Record Type: Journal Article
• Authors: Burgess, E A; Oberholzer, V G; Semmens, J M; Stern, J
• Is Part Of: Archives of disease in childhood. Volume 53:Issue 2(1978)
• Page Start: 179
• Page End: 182
• Publication Date: 1978-02
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.53.2.179
• Languages: English
• ISSNs: 0003-9888

Abstract

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.