Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert · 2026
Read Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency by Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13631685.txt.
Description
Nandaki Keshavan leads a large international panel behind these consensus guidelines for pyruvate dehydrogenase complex deficiency. The rare inherited condition weakens an enzyme complex that turns a sugar breakdown product into fuel for cells. Its effects range from dangerous acid buildup in newborns to learning delay with epilepsy in children and milder nerve problems in adults. Care had varied widely between hospitals and countries.
Experts from Europe and North America reviewed the published evidence and voted through a structured Delphi process until they agreed. They produced one hundred ninety-nine recommendations, each graded for strength and quality of evidence. The guidance covers diagnosis, diet and other treatments, watching for complications, genetic counseling, and the move into adult care. The panel also lists the biggest gaps in knowledge, pointing to where new treatments are most needed.
Catalog record
| CREATOR | Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 37 KB |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |