HPDL Variant Type Correlates With Clinical Disease Onset and Severity

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylp...

Full description

Saved in:
Bibliographic Details
Main Authors: Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson
Format: Article
Language:English
Published: Wiley 2025-07-01
Series:Annals of Clinical and Translational Neurology
Subjects:
4‐hydroxyphenylpyruvate dioxygenase‐like protein
encephalopathy
hereditary spastic paraplegia
HPDL
mitochondria
Online Access:https://doi.org/10.1002/acn3.70047
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://doi.org/10.1002/acn3.70047

Similar Items