Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (ARLIAK) is a recently described autosomal recessive leukoencephalopathy caused by pathogenic variants in the SLC13A3 gene. ARLIAK is characterized by acute neurologic involvement, often precipitated by febrile illness, with largely reversible clinical symptoms and imaging findings. Three patients have been reported in the literature to date. Our objective is to report newly identified patients and their genetic variants and phenotypes and review published literature on ARLIAK.

This report contributes 4 additional patients to the literature; describes novel variants in SLC13A3; and reviews genetic, biochemical, clinical, and radiologic features of all published patients with ARLIAK.

We provide additional genetic, imaging, and laboratory insights into ARLIAK, an atypical leukodystrophy with clinical and radiologic findings that can normalize.

Our case series highlights the importance of reanalysis of next-generation sequencing in the diagnostic workup.

急性可逆性白质脑病伴尿 α-酮戊二酸增加 (ARLIAK) 是一种最近描述的常染色体隐性遗传性白质脑病，由SLC13A3基因的致病性变异引起。ARLIAK 的特点是急性神经系统受累，通常由发热性疾病引发，临床症状和影像学表现在很大程度上是可逆的。迄今为止，文献中已报道了三名患者。我们的目标是报告新发现的患者及其遗传变异和表型，并回顾已发表的 ARLIAK 文献。

该报告为文献贡献了另外 4 名患者；描述SLC13A3的新变体；并回顾了所有已发表的 ARLIAK 患者的遗传、生化、临床和放射学特征。

我们为 ARLIAK 提供额外的遗传学、影像学和实验室见解，ARLIAK 是一种非典型脑白质营养不良，临床和放射学结果可以正常化。

我们的案例系列强调了诊断检查中下一代测序重新分析的重要性。