Pharmacologic amino acid acylation in the acute hyperammonemia of propionic acidemia

Suzanne Petrowski, William L. Nyhan, Vivian Reznik, Lawrence Sweetman, Stanko Kulovich, Jon Wolff, Gilbert Jones

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

An infant with propionic acidemia presented at one month of age with hyperammonemic coma. Treatment by two double-volume exchange transfusions did not have an appreciable effect, but hemodialysis led to a substantial reduction of the serum concentration of ammonia on two occasions. Nevertheless, continued therapy with sodium benzoate, arginine-HCl, carnitine and lactulose did not have any observable effect on the blood concentration of ammonia. Treatment with sodium phenylacetate was followed by a reduction in serum concentrations of ammonia to normal levels which were maintained. These observations demonstrate the dramatic reduction in serum concentrations of ammonia that may be obtained in patients with organic acidemia by hemodialysis. They suggest that pharmacologic acylation therapy with phenylacetate may be of lasting benefit in the management of this complication.

Original languageEnglish (US)
Pages (from-to)87-96
Number of pages10
JournalJournal of Neurogenetics
Volume4
Issue number1
DOIs
StatePublished - 1987
Externally publishedYes

Keywords

  • Hemodialysis
  • Hyperammonemic coma
  • Pharmacologic acylation
  • Phenyl acetate
  • Propionic acidemia

ASJC Scopus subject areas

  • Genetics
  • Cellular and Molecular Neuroscience

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