Adenylosuccinate lyase deficiency is a rare neurometabolic recessive disorder of purine metabolism characterized by a wide range of clinical manifestations.

We present a very mild phenotype of two siblings characterized by mild isolated cognitive disability, in absence of brain anomalies, seizures, EEG anomalies and without progression of disease. The two patients had unsuccessfully been investigated until clinical exome was performed. In both siblings, compound heterozygosity for two inherited missense variants in ADSL gene, c.76A>T (p.Met26Leu) and c.1187G>A (p.Arg396His), were detected. Analysis of the catabolic pathway of autophagy on EBV-transformed B lymphoblastoid cell derived from the male patient excluded the presence of any autophagy alterations at the basal level.

Further studies are necessary to understand the pathogenesis of the disease and to elucidate the potential role of autophagy in the development of ADSL deficiency.

腺苷琥珀酸裂合酶缺乏症是一种罕见的嘌呤代谢神经代谢性隐性疾病，其临床表现范围广泛。

我们提出了两个兄弟姐妹的一个非常轻度的表型，其特征是轻度孤立的认知障碍，没有脑部异常，癫痫发作，脑电图异常并且没有疾病进展。直到进行临床外显子组检查后，这两名患者均未得到成功调查。在两个兄弟姐妹中，检测到ADSL基因中两个遗传的错义变体c.76A> T（p.Met26Leu）和c.1187G> A（p.Arg396His）的复合杂合性。对源自男性患者的EBV转化的B淋巴母细胞的自噬分解代谢途径的分析排除了基础水平上任何自噬改变的存在。

有必要进行进一步的研究以了解该疾病的发病机理，并阐明自噬在ADSL缺乏症发展中的潜在作用。