Lessons from the late diagnosis of isovaleric acidemia in a five-year-old boy.
作者信息
Mehta K C, Zsolway K, Osterhoudt K C, Krantz I, Henretig F M, Kaplan P
机构信息
Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, USA.
出版信息
J Pediatr. 1996 Aug;129(2):309-10. doi: 10.1016/s0022-3476(96)70261-5.
PMID:8765634
Abstract
Chronic, intermittent isovaleric acidemia was undiagnosed in a boy with an increased anion gap metabolic acidosis until the boy was 5 years of age. This case emphasizes the importance of maintaining a high index of suspicion for inborn errors of metabolism in patients with metabolic acidosis, even in late childhood.
摘要
Zotero 插件