Biallelic 4-hydroxyphenylpyruvate dioxygenase-like protein (HPDL) variants were recently reported as a cause of progressive and incurable neurodegenerative diseases ranging from neonatal-onset leukoencephalopathy with severe neurodevelopmental delay to spastic paraplegia. Although the physiological function of HPDL remains unknown, its subcellular localization in the mitochondria has been reported. Here, we report a case of HPDL-related neurological disease that was clinically and neuroimaging compatible with Leigh syndrome, previously unreported, and was treated with a ketogenic diet.

中文翻译：

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生酮饮食治疗的双等位基因 HPDL 变异患者的 Leigh 综合征样 MRI 变化

双等位基因 4-羟基苯基丙酮酸双加氧酶样蛋白 ( HPDL ) 变体最近被报道为进行性和无法治愈的神经退行性疾病的原因，范围从新生儿发病的白质脑病伴严重的神经发育迟缓到痉挛性截瘫。尽管 HPDL 的生理功能仍然未知，但已经报道了其在线粒体中的亚细胞定位。在这里，我们报告了一例HPDL相关的神经系统疾病，该疾病在临床和神经影像学上与 Leigh 综合征相符，以前未报告过，并且接受了生酮饮食治疗。