Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl‐tRNA Synthetase Deficiencies
I. J. J. Muffels, G. Kok, Z. Tang, L. S. Medeiros, F. O. Poswar, W. P. Vermeij, R. Rodenburg, K. Smit, S. K. Sukumaran, S. B. Wortmann, L. Averdunk, J. Munch, J. Pak‐lam Ho, A. M. K. Kwok, E. E. S. Nieuwenhuis, P. M. van Hasselt, I. V. D. Schwartz, C. M. A. Lubout, A. M. Bosch, K. Koop, E. M. M. Hoy · 2026
Read Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl‐tRNA Synthetase Deficiencies by I. J. J. Muffels, G. Kok, Z. Tang, L. S. Medeiros, F. O. Poswar, W. P. Vermeij, R. Rodenburg, K. Smit, S. K. Sukumaran, S. B. Wortmann, L. Averdunk, J. Munch, J. Pak‐lam Ho, A. M. K. Kwok, E. E. S. Nieuwenhuis, P. M. van Hasselt, I. V. D. Schwartz, C. M. A. Lubout, A. M. Bosch, K. Koop, E. M. M. Hoy (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/pmc-13657799.txt.
Description
A large team of authors reports a 2026 study of tailored amino acid treatment for children with rare faults in genes that help cells load transfer RNA. The faults affect the cell powerhouses and can cause severe, at times fatal, disease. Extra doses of the matching amino acid had helped in a related group of faults, but not yet in this one.
The team first starved patient skin cells of the amino acid and saw weaker cell power and slower breathing of the cells. They then gave oral doses to nine young patients. The doses were well tolerated, with no side effects seen. Some children showed better growth, better heart work, or gains in development.
Catalog record
| CREATOR | I. J. J. Muffels, G. Kok, Z. Tang, L. S. Medeiros, F. O. Poswar, W. P. Vermeij, R. Rodenburg, K. Smit, S. K. Sukumaran, S. B. Wortmann, L. Averdunk, J. Munch, J. Pak‐lam Ho, A. M. K. Kwok, E. E. S. Nieuwenhuis, P. M. van Hasselt, I. V. D. Schwartz, C. M. A. Lubout, A. M. Bosch, K. Koop, E. M. M. Hoy |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 50 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |