# Mitochondrial Dysfunction in Propionic Acidemia: A Case‐Report and Review of the Literature

## TL;DR

This paper discusses a case of propionic acidemia with mitochondrial dysfunction and how it was managed clinically.

## Contribution

The paper presents a rare clinical case highlighting mitochondrial dysfunction management in propionic acidemia.

## Key findings

- A propionic acidemia patient presented with hyperglycemia and lactic acidosis, managed by reducing glucose infusion.
- Mitochondrial dysfunction was considered in clinical decision-making for this patient.
- The case highlights the importance of recognizing secondary mitochondrial dysfunction in propionic acidemia.

## Abstract

Propionic acidemia is an inborn error of metabolism involving an enzymatic defect of propionyl‐CoA carboxylase that results in the build‐up of toxic metabolites which can induce metabolic decompensation. Secondary mitochondrial dysfunction in propionic acidemia has been commonly recognized; however, its clinical presentation and management are not well represented in literature. Here, we present a case of profound hyperglycemia and lactic acidosis without hyperammonemia in a propionic acidemia patient, where medical management incorporated mitochondrial dysfunction via a brief reduction in glucose infusion rate. We review the literature on propionic acidemia and mitochondrial dysfunction in an effort to provide a tangible clinical case where considerations of mitochondrial dysfunction were made to guide further decision making in taking care of this patient population.