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November 1970

Congenital HyperammonemiaAssociation With Hyperglycinemia and Decreased Levels of Carbamyl Phosphate Synthetase

Author Affiliations

New York
From the Neurological Clinical Research Center and Babies Hospital, Columbia-Presbyterian Medical Center, departments of neurology (Drs. Freeman, Rowland, and Carter), pediatrics (Dr. Nicholson), and biochemistry (Dr. Nicholson), College of Physicians and Surgeons, Columbia University, New York, and National Institute of Arthritis and Metabolic Disease, Bethesda, Md (Dr. Schimke). Dr. Freeman is now with the departments of neurology and pediatrics, Johns Hopkins Hospital, Baltimore. Dr. Schimke is now with the Department of Pharmacology, Stanford University School of Medicine, Palo Alto, Calif. Dr. Rowland is now with the Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia.

Arch Neurol. 1970;23(5):430-437. doi:10.1001/archneur.1970.00480290050006

THE CATABOLIC deamination and transamination of protein results in the formation of ammonia, a noxious substance that must be detoxified and excreted. Retention of ammonia in adults is usually due to advanced liver disease or portocaval shunts and is often associated with encephalopathy. In contrast, ammonia retention in children is usually due to an inherited metabolic defect of the urea cycle. This article describes an abnormality of urea metabolism, presumably due to a deficiency of carbamyl phosphate synthetase. Although the principal clinical manifestations were those of ammonia intoxication, hyperglycinemia and a persistent acidosis, with intermittent ketosis, and hyperlipemia were also noted.

Report of a Case  This 5-week-old girl was transferred to Babies Hospital because of unexplained vomiting and intermittent coma. She was the result of the sixth pregnancy of unrelated parents. The first two pregnancies ended in miscarriages, the third in an ectopic pregnancy. The fourth, a girl, died

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