Acute Late-onset Pyruvate Dehydrogenase Deficiency with Specific Diagnostic Clues : Report of Five New Patients

Abstract

This article sought to explore acute late-onset pyruvate dehydrogenase complex (PDHc) deficiency, a mitochondrial disorder affecting energy metabolism. Five new cases have herein been reported, specifying clinical features, genetic pathogenic variants, and therapeutic strategies. Patients experienced intermittent ataxia and weakness episodes. Diagnosis relied on biochemical investigations, and it was confirmed by molecular genetic analysis, revealing pathogenic variants in the PDHA1 gene. The treatment consisted of a ketogenic diet and vitamin supplementation, leading to symptom reduction. This study has highlighted the diverse presentations of PDHc deficiency, in addition to relevance of genetic analysis and efficacy of personalized treatments like ketogenic diets.