Wei Chang-Ching, Lin Wei-De, Tsai Fuu-Jen, Wu Jer-Yuarn, Peng Ching-Tien, Tsai Chang-Hai
Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan.
Acta Paediatr Taiwan. 2004 Jul-Aug;45(4):236-8.
Isovaleric acidemia (IVA), a recessive autosomal disorder, is caused by isovaleryl-CoA dehydrogenase deficiency. Isovaleric acidemia may present with symptoms during the acute stage of severe metabolic acidosis, ketosis, vomiting and altered mental status. This report concerns a 2-month-old female infant diagnosed as isovaleric acidemia by tandem mass spectrometry. She presented with two episodes of vomiting, poor activity and pancytopenia without obvious metabolic acidosis and hyperammonemia. She received combined therapy of L-carnitine, glycine and low protein and leucine diet. Hemogram and serum isovalerylcarnitine (IVC) were measured during the treatment. The depressed leukocyte and platelets recovered when serum isovalerylcarnitine level increased.
异戊酸血症（IVA）是一种常染色体隐性疾病，由异戊酰辅酶A脱氢酶缺乏引起。异戊酸血症在严重代谢性酸中毒、酮症、呕吐及精神状态改变的急性期可能出现症状。本报告涉及一名2个月大的女婴，通过串联质谱法诊断为异戊酸血症。她出现了两次呕吐、活动减少和全血细胞减少，无明显代谢性酸中毒和高氨血症。她接受了左卡尼汀、甘氨酸联合治疗及低蛋白和低亮氨酸饮食。治疗期间检测了血常规和血清异戊酰肉碱（IVC）。当血清异戊酰肉碱水平升高时，降低的白细胞和血小板恢复正常。
