Chen Tao, Gao Yian, Zhang Shengdong, Wang Yuanyuan, Sui Chaofan, Yang Linfeng
Department of Clinical Laboratory, Jinan Maternity and Child Care Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, China.
Department of Radiology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, China.
Front Neurosci. 2023 Jan 26;17:1110942. doi: 10.3389/fnins.2023.1110942. eCollection 2023.
Methylmalonic acidemia (MMA) is a genetic disease of abnormal organic acid metabolism, which is one of the important factors affecting the survival rate and quality of life of newborns or infants. Early detection and diagnosis are particularly important. The diagnosis of MMA mainly depends on clinical symptoms, newborn screening, biochemical detection, gene sequencing and neuroimaging diagnosis. The accumulation of methylmalonic acid and other metabolites in the body of patients causes brain tissue damage, which can manifest as various degrees of intellectual disability and severe neurological dysfunction. Neuroimaging examination has important clinical significance in the diagnosis and prognosis of MMA. This review mainly reviews the etiology, pathogenesis, and nervous system development, especially the neuroimaging features of MMA.
甲基丙二酸血症（MMA）是一种有机酸代谢异常的遗传性疾病，是影响新生儿或婴儿存活率和生活质量的重要因素之一。早期检测和诊断尤为重要。MMA的诊断主要依靠临床症状、新生儿筛查、生化检测、基因测序和神经影像学诊断。患者体内甲基丙二酸等代谢产物的蓄积会导致脑组织损伤，可表现为不同程度的智力残疾和严重的神经功能障碍。神经影像学检查在MMA的诊断和预后评估中具有重要的临床意义。本文综述主要回顾了MMA的病因、发病机制以及神经系统发育情况，尤其是其神经影像学特征。
