Hyperglycinemia and propionyl CoA carboxylase deficiency and episodic severe illness without consistent ketosis

William B. Wadlington, A. nthony Kilroy, Toshiyuki Ando, Lawrence Sweetman, William L. Nyhan

Research output: Contribution to journalArticlepeer-review

22 Scopus citations

Abstract

Propionyl CoA carboxylase deficiency was found in a 7-month-old boy who presented with attacks of vomiting,anorexia, weight loss, weakness, and hypotonia. He failed to thrive and had generalized seizures. He had propionic acidemia and hyperglycinemia; these are the manifestations of the ketotic hyperglycinemia syndrome. However, ketonuria was not a consistent part of his clinical picture, and he had at least two episodes of acute overwhelming illness, the latter one fatal, in which ketones were never found in the urine. Large amounts of pyrrolidone carboxylic acid were found in body fluids.

Original languageEnglish (US)
Pages (from-to)707-712
Number of pages6
JournalThe Journal of pediatrics
Volume86
Issue number5
DOIs
StatePublished - May 1975
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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