PEDIATRICS Vol. 53 No. 2 February 1974, pp. 221-225
This Article
Right arrow Full Text (PDF)
Right arrow P3Rs: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when P3Rs are posted
Right arrow Alert me if a correction is posted
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Hillman, R. E.
Right arrow Articles by Keating, J. P.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Hillman, R. E.
Right arrow Articles by Keating, J. P.

Beta-Ketothiolase Deficiency As A Cause of the "Ketotic Hyperglycinemia Syndrome"

Richard E. Hillman M.D.1 and James P. Keating M.D.1

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

A patient was investigated who had the "ketotic hyperglycinemia syndrome" with normal propionate and methyimalonate metabolism, but with a markedly decreased ability to catabolize isoleucine. Gas liquid chromatography of her urine revealed excretion of large amounts of agr-methyl beta-hydroxybutyrate and agr-methyl-acetoacetate. Thin layer chromatography of dinitrophenylhydrazones of urinary ketones showed large quantities of butanone and smaller amounts of pentanone and hexanone. Incubation of her fibroblasts with isoleucine-u-14C demonstrated the production of butanone-14C. These findings suggest that this child has deficient activity of the beta-ketothiolase reaction which cleaves agr-methylacetoacetyl CoA to propionyl CoA and acetyl CoA. This child indicates that another potentially treatable disease must be considered in a young infant who presents with vomiting and acidosis.

Submitted on April 18, 1973
Accepted on June 25, 1973