Glutaric aciduria type I (GA1; OMIM #231670) is an autosomal recessively inherited and treatable disorder characterized by the accumulation and irregular excretion of glutaric acid due to a defect in the glutaryl-CoA dehydrogenase enzyme involved in the catabolic pathways of l-lysine, l-hydroxylysine, and l-tryptophan. Glutaryl-CoA dehydrogenase is encoded by the GCDH gene (OMIM #608801), and several mutations in this gene are known to result in GA1. GA1 usually presents in the first 18–36 months of life with mild or severe acute encephalopathy, movement disorders, and striatal degeneration. Few cases of adult-onset GA1 have been described so far in the literature, often with non-specific and sometimes longstanding neurological symptoms. Since a preventive metabolic treatment is available, neurologists must be aware of this rare but likely underdiagnosed presentation, especially when typical neuroimaging features are identified. Here, we describe 35-year-old presenting with headache and subjective memory problems. There was no history of dystonic movement disorders. Neurological examination and neurocognitive tests were normal. Brain MRI scan revealed white matter abnormalities associated with subependymal nodules and mild frontotemporal hypoplasia suggestive of glutaric aciduria type 1 (GA1). Genetic testing confirmed the presence of homozygous c.1204C > T (p.R402W) variant in the GCDH gene, inherited from heterozygous parents.

中文翻译：

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I型成人发作戊二酸尿症：可治疗疾病的罕见表现。

I型戊二酸尿症（GA1; OMIM＃231670）是一种常染色体隐性遗传和可治疗的疾病，其特征在于由于参与l-赖氨酸分解代谢途径的戊二酰辅酶A脱氢酶的缺陷，戊二酸的积累和不规则排泄，1-羟基赖氨酸和1-色氨酸。谷氨酰辅酶A脱氢酶由GCDH编码基因（OMIM＃608801），并且已知该基因的多个突变会导致GA1。GA1通常在生命的头18-36个月出现轻度或重度急性脑病，运动障碍和纹状体变性。迄今为止，在文献中几乎没有描述成年发作的GA1病例，通常具有非特异性的，有时甚至是长期的神经系统症状。由于可以进行预防性代谢治疗，因此神经科医生必须意识到这种罕见但可能未得到充分诊断的表现，尤其是在确定了典型的神经影像学特征时。在这里，我们描述了35岁时出现头痛和主观记忆问题的人。没有肌张力障碍运动史。神经系统检查和神经认知测试正常。脑部MRI扫描显示与室管膜下结节和轻度额颞叶发育不全相关的白质异常，提示1型戊二酸尿症（GA1）。遗传检测证实在猪中存在纯合c.1204C> T（p.R402W）变体。GCDH基因，从杂合父母那里遗传。