Kılıç Mustafa, Kaymaz Nazan, Özgül Rıza Köksal
Keçiören Training and Research Hospital, Department of Pediatrics, Division of Metabolism, Ankara, Turkey. E-mail:
J Clin Res Pediatr Endocrinol. 2014;6(1):59-61. doi: 10.4274/Jcrpe.1181.
Isovaleric acidemia (IVA) is characterized by periodic vomiting, lethargy, coma, ketoacidosis and a 'sweaty feet' odor. Hyperglycemia, ketonemia, ketonuria and metabolic acidosis are the main clinical features of diabetic ketoacidosis (DKA) and these same symptoms can also be seen in acute attacks of metabolic diseases. We report a 2-year-old patient who presented with acute encephalopathy, hyperglycemia, metabolic acidosis, increased anion gap, ketosis and a preliminary diagnosis of DKA. Further investigation revealed IVA. This case is of interest because of the rarity of this presentation and detection of a splicing mutation in the isovaleryl-CoA dehydrogenase gene.
异戊酸血症（IVA）的特征为周期性呕吐、嗜睡、昏迷、酮症酸中毒以及“汗脚”气味。高血糖、酮血症、酮尿症和代谢性酸中毒是糖尿病酮症酸中毒（DKA）的主要临床特征，这些相同症状在代谢性疾病急性发作时也可见到。我们报告一名2岁患者，其表现为急性脑病、高血糖、代谢性酸中毒、阴离子间隙增加、酮症，初步诊断为DKA。进一步检查发现为IVA。该病例令人关注，因为这种表现罕见，且在异戊酰辅酶A脱氢酶基因中检测到一个剪接突变。
