巴特综合征
别名(英)
3-alpha-methylglutaconic aciduria type 2,3-methylglutaconic aciduria type 2,3-methylglutaconic aciduria type II,AGM2,Cardioskeletal myopathy-neutropenia,Cardioskeletal myopathy with neutropenia and abnormal mitochondria,INVM,Left ventricular non-compaction isolated X-linked,MGA2,MGA type II,MGCA2,Non-compaction of left ventricular myocardium isolated X-linked
别名
3-α-甲基戊二酸尿症 2,3-甲基戊二酸尿症 2,3-甲基戊二酸尿症 II 型,AGM2,心肌骨骼肌病-中性粒细胞减少症,中性粒细胞减少症和线粒体异常的心肌骨骼肌病,INVM,左心室非致密化孤立 X 连锁, MGA2,MGA II型,MGCA2,未致密化的左心室离体X连锁心肌
统计
reviewed:1; annotated:0
交叉引用
302060,C0574083,D056889
描述(英)
An X-linked disease characterized by dilated cardiomyopathy with endocardial fibroelastosis, a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Additional features include hypertrophic cardiomyopathy, isolated left ventricular non- compaction, ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood.
描述
一种 X 连锁疾病，其特征是扩张型心肌病伴心内膜弹性纤维增生、主要是近端骨骼肌病、生长迟缓、中性粒细胞减少和有机酸尿，尤其是 3-甲基戊二酸过多。其他特征包括肥厚性心肌病、孤立的左心室非致密化、室性心律失常、运动迟缓、食欲不振、疲劳和运动不耐受、低血糖、乳酸酸中毒、高氨血症以及整个儿童期生长迟缓后的显着晚期追赶性生长。