Acute Late-onset Pyruvate Dehydrogenase Deficiency with Specific Diagnostic Clues : Report of Five New Patients
(2025) Belgian Journal of Paediatrics — Vol. 27, n° 1, p. 51-54 (2025)
Files
DembourBJP2025.pdf
Open Access - Adobe PDF
- 520.29 KB
Details
- Authors
- Abstract
- The aim of this article was to explore acute late-onset pyruvate dehydrogenase complex (PDHc) deficiency, a mitochondrial disorder affecting energy metabolism. Five new cases are reported, and clinical features, genetic pathogenic variants and therapeutic strategies are described. Patients presented with intermittent episodes of ataxia and weakness. The diagnosis was based on biochemical studies and confirmed by molecular genetic analysis, which revealed pathogenic variants in the PDHA1 gene. Treatment consisted of a ketogenic diet and vitamin supplementation, which led to a reduction in symptoms. This study highlighted the diversity of PDHc deficiency, the relevance of genetic analysis and the efficacy of personalised treatments such as ketogenic diets.
- Affiliations
Citations
Dembour, A., Dumitriu, D. I., Seneca, S., Dewulf, J., paquay, s., & Nassogne, M.-C. (2025). Acute Late-onset Pyruvate Dehydrogenase Deficiency with Specific Diagnostic Clues : Report of Five New Patients. Belgian Journal of Paediatrics, 27(1), 51-54. https://hdl.handle.net/2078.5/270982 (Original work published 2025)