高甲硫氨酸血症的研究现状  

Research status on hypermethioninemia

作　　者：王倩倩(综述)[1] 陈志红(审校)[1] Wang Qianqian;Chen Zhihong(Department of Neurology and Endocrine Pediatrics,the Affiliated Hospital of Qingdao University,Qingdao 266003,China)

机构地区：[1]青岛大学附属医院神经内分泌儿科,266003

出　　处：《国际儿科学杂志》2018年第11期855-859,共5页International Journal of Pediatrics

摘　　要：高甲硫氨酸血症是一组以血浆甲硫氨酸升高而定义的疾病组群,临床上较为罕见,其原因包括遗传因素和非遗传因素。甲硫氨酸代谢途径异常影响甲基转移过程,是高甲硫氨酸血症最常见的遗传因素。大多数患者无临床表现,或仅有生化异常,有临床症状的患者亦无特异性,如精神发育迟滞、认知障碍、中度肝肿大、肌张力低下、Marfans综合征样体型、骨质疏松及心脑血管疾病等。治疗上主要推荐低甲硫氨酸饮食,同时强调新生儿筛查的重要性。产前诊断可以减少出生缺陷的发生,但其必要性仍存在争议。远期预后尚不可知,需定期监测血浆甲硫氨酸水平,个体化随访是评估预后的关键。Hypermetioninemia is a group of rare diseases defined by plasma methionine elevation.The causes of hypermethioninemia include genetic and non-genetic factors.Affecting the transmethylation process in the metabolic pathway between methionine and homocysteine is the common inherited methylation disorders. Most patients had completely asymptomatic and only biochemical abnormalities,others with clinical symptoms were also non-specific,such as mental retardation,cognitive impairment,moderate hepatomegaly,dystonia, Marfans syndrome type,osteoporosis,and cardiovascular disease,and etc.A low methionine diet treatment is recommended,the importance of neonatal screening is emphasized and the birth defects can be reduced through prenatal diagnosis ,but the necessity remains controversial.The long-term prognosis of this disorders is unknown ,the plasma of methionine should be measured at regular intervals,and the individualized follow-up is very important.

关 键 词：高甲硫氨酸血症 甲硫氨酸腺苷转移酶Ⅰ/Ⅲ缺陷 甘氨酸N-甲基转移酶缺陷 S-腺苷高半胱氨酸水解酶缺陷 胱硫醚β合酶缺陷 

分 类 号：R543.5[医药卫生—心血管疾病]