Phenylalanine–tyrosine–catecholamine axis disorders: pathways, molecular diagnosis, therapeutics, and emerging translational monitoring technologies
Martina Isabella Armas Samaniego, Benjamin Arias-Almeida, Andrés León-Piñeiros, Jorge G. Figueroa, Andrea Vargas-Freire, Melissa López, Natalí Solano-Cueva, Juan Carlos Collantes, María de Lourdes Huiracocha-Tutiven, Gabriele Davide Bigoni-Ordóñez, Juan Carlos Pozo-Palacios, Vanessa Romero · 2026
Read Phenylalanine–tyrosine–catecholamine axis disorders: pathways, molecular diagnosis, therapeutics, and emerging translational monitoring technologies by Martina Isabella Armas Samaniego, Benjamin Arias-Almeida, Andrés León-Piñeiros, Jorge G. Figueroa, Andrea Vargas-Freire, Melissa López, Natalí Solano-Cueva, Juan Carlos Collantes, María de Lourdes Huiracocha-Tutiven, Gabriele Davide Bigoni-Ordóñez, Juan Carlos Pozo-Palacios, Vanessa Romero (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-13218992.txt.
Description
Martina Isabella Armas Samaniego and co-authors review a group of rare conditions that affect how the brain makes key signal chemicals. Their 2026 review follows a chain that starts with two building blocks from food and leads to dopamine and related signals. Faults in enzymes along that chain can cause movement problems, slow growth of skills, and changes in mood and behaviour.
The review covers the main enzyme faults, from the first step in the chain to the last. It explains how diagnosis has moved from single blood tests toward joined testing that pairs body signs with lab measures and gene tests. Gene results now help plan care and advise families. New sensor tools may one day let patients track these chemicals with less invasive tests at home or in small clinics.
Catalog record
| CREATOR | Martina Isabella Armas Samaniego, Benjamin Arias-Almeida, Andrés León-Piñeiros, Jorge G. Figueroa, Andrea Vargas-Freire, Melissa López, Natalí Solano-Cueva, Juan Carlos Collantes, María de Lourdes Huiracocha-Tutiven, Gabriele Davide Bigoni-Ordóñez, Juan Carlos Pozo-Palacios, Vanessa Romero |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 46 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |