PEDIATRICS Vol. 50 No. 6 December 1972, pp. 890-895
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HYPERGLYCINEMIA WITH KETOSIS DUE TO A DEFECT IN ISOLEUCINE METABOLISM: A PRELIMINARY REPORT

James P. Keating M.D.1, Ralph D. Feigin M.D.1, Stanley M. Tenenbaum M.D.1, and Richard E. Hillman M.D.1

1 Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and the Division of Gastroenterology, Infectious Disease and Genetics of St. Louis Children's Hospital

A new metabolic defect, clinically mimicking pyloric stenosis, propionic acidemia, and methylmalonic acidemia is described. Although the specific enzymatic defect has not been identified, the infant's response to protein restriction has been excellent. Unfortunately, some evidences of developmental delay persist. Earlier recognition and institution of therapy may, as in allied disorders, be associated with normal physical and intellectual development.

Submitted on April 27, 1972
Accepted on July 27, 1972




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P. J. Katzman and G. L. Arnold
Propionic Acidemia Presenting as Pyloric Stenosis
Clinical Pediatrics, November 1, 1995; 34(11): 613 - 615.
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