Ⅰ型葡萄糖载体缺陷综合征是一种新认识的、可以治疗的神经系统遗传代谢病。它以婴儿期癫癎发作、生长发育迟缓、小头畸形和持续性脑脊液低葡萄糖含量为主要的临床特征，其病因为大脑微血管内皮细胞膜上的Ⅰ型葡萄糖载体缺陷。临床抗癫癎药物治疗无效。生酮饮食（即高脂饮食）是目前唯一有效的治疗办法。 Type I glucose carrier deficiency syndrome is a newly recognized and treatable neurological metabolic disorder. It is infantile epileptic seizures, growth retardation, microcephaly and persistent cerebrospinal fluid low glucose content as the main clinical features, the cause of the brain microvascular endothelial cell membrane type I glucose carrier defects. Clinical anti-epileptic drug therapy is invalid. Ketogenic diet (ie, high-fat diet) is the only effective treatment.