Aminotransferase trends in propionic acidemia

Maria P. Silva, Carolyn R. Raski, Joel Charrow, Joshua J. Baker, Carlos E. Prada*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Propionic acidemia is a metabolic condition with multiple serious acute and chronic presentations that require strict monitoring. Literature on liver function abnormalities in propionic acidemia is scarce, and the mechanism of liver impairment in this condition remains unclear. Currently, there is no indication for liver-function tests during follow-up and their clinical or prognostic utility is unknown. This study aimed to determine aminotransferase trends in individuals with propionic acidemia at a single institution. We retrospectively evaluated and classified the aminotransferases of 12 patients with propionic acidemia during hospital admissions and routine office visits. The present findings suggest that aminotransferase elevations are very common in this population and can persist beyond acute illness. During hospitalization events, aminotransferases were not a predictor of severity, duration of stay, and readmission within 1 month. Understanding aminotransferase trends in these patients will help clinicians make decisions in the acute setting and potentially in the follow-up of new therapies.

Original languageEnglish (US)
Article numbere63659
JournalAmerican Journal of Medical Genetics, Part A
Volume194
Issue number9
DOIs
StatePublished - Sep 2024

Keywords

  • inherited errors of amino acid metabolism
  • liver abnormalities
  • propionic acidemia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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