Mitochondrial dysfunction in methylmalonic acidemia: A pilot study using Seahorse technology in peripheral blood.

ABSTRACT:

Introduction

Isolated methylmalonic acidemia (MMA) is an inborn error of metabolism due to the deficiency of the methylmalonic mutase enzyme. Many patients develop chronic complications such as basal ganglia lesions or kidney impairment. A growing body of evidence supports secondary mitochondrial dysfunction as the main cause for the development of these long-term complications, even in patients with good metabolic control. Currently, available methods to study mitochondrial function are often invasive, such as muscular or skin biopsy.

Objectives

This pilot study is aimed to develop a safe, non-invasive method to assess mitochondrial and glycolytic function in isolated MMA patients using lymphocytes.

Materials and methods

Mitochondrial bioenergetics and glycolysis wer

SUBMITTER: Stanescu S 

PROVIDER: S-EPMC12861724 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature