Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.

Shereen G GhoshSangmoon LeeRudy FabunanGuoliang ChaiMaha S ZakiGhada Abdel-SalamTipu SultanTawfeg Ben-OmranJaveria Raza AlviJennifer McEvoy-VenneriValentina StanleyAakash PatelDanica RossJeffrey DingMohit JainDaqiang PanPhilipp LübbertBernd KammererNils WiedemannNanda M Verhoeven-DuifJudith J JansDavid MurphyMehran Beiraghi ToosiFarah AshrafzadehShima ImannezhadEhsan Ghayoor KarimianiKhalid IbrahimElizabeth R WatersReza MaroofianJoseph G Gleeson

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

The mitochondrial localization, along with its disrupted metabolic profile, suggests HPDL loss in humans links to a unique neurometabolic mitochondrial infantile neurodegenerative condition.

Keyphrases

oxidative stress
copy number
intellectual disability
autism spectrum disorder
resting state
genome wide