FURTHER OBSERVATIONS OF A PATIENT WITH HYPERGLYCINEMIA
Barton Childs M.D.1 and
William L. Nyhan M.D.1
1 Department of Pediatrics, Johns Hopkins University School of Medicine and the Harriet Lane Home for Invalid Children, Johns Hopkins Hospital
Observations of a patient with hyperglycinemia have been extended. The patient, who has been subsisting on a low protein diet, has shown some improvement in the clinical manifestations though he has failed to grow. Loading experiments have increased the list of amino acids capable of inducing ketosis and symptoms in the patient to five: leucine, isoleucine, valine, threonine, and methionine. Eleven other amino acids have been similarly tested and were found to be beneficial, reducing the toxicity of the five ketogenic amino acids. Blood levels of the amino acids have been measured under a variety of circumstances. When given alone, the toxic amino acids were found to accumulate in the blood. Such accumulations were less striking when the nonketogenic amino acids were given together with the ketogenic ones. The patient has been benefitted by a diet low in protein which has been supplemented by the innocuous amino acids.
Submitted on July 8, 1963
Accepted on August 20, 1963
