Article
HPDL Variant Type Correlates With Clinical Disease Onset and Severity.
Annals of clinical and translational neurology - 1 Jul 2025
Lee Eun Hye, Kim-Mcmanus Olivia, Yang Jennifer H, Haas Richard, Zaki Maha S, Abdel-Salam Ghada M H, Nakamura Yuji, Abdel-Hamind Mohamed S, Ebrahimi-Fakhari Darius, Alecu Julian E, Brunetti-Pierri Nicola, Srinivasan Varunvenkat M, Gowda Vykuntaraju K, Gross Stephanie, Alanay Yasemin, Najarzadeh Totbati Paria, Yadavilli Manya, Friedman Liana, Ojeda Naomi Meave, Gleeson Joseph G
Abstract excerpt
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-hydroxyphenylpyruvate acid (4-HPPA) into 4-hydroxymandelate (4-HMA), necessary for the synthesis of the mitochondrial electron transporter...
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