RECURRENT EPISODES OF BIZARRE BEHAVIOR IN A BOY WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY - DIAGNOSTIC FAILURE OF PROTEIN LOADING AND ALLOPURINOL CHALLENGE TESTS

被引：19
作者：
SPADA, M
GUARDAMAGNA, O
RABIER, D
VANDERMEER, SB
PARVY, P
BARDET, J
PONZONE, A
SAUDUBRAY, JM
机构：
[1] HOP NECKER ENFANTS MALAD, DEPT PEDIAT, PARIS, FRANCE
[2] HOP NECKER ENFANTS MALAD, DEPT BIOCHEM, PARIS, FRANCE
[3] UNIV TURIN, DEPT PEDIAT, I-10124 TURIN, ITALY
来源：
JOURNAL OF PEDIATRICS | 1994年 / 125卷 / 02期
关键词：
D O I：
10.1016/S0022-3476(94)70205-5
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Recurrent episodes of bizarre behavior were the only clinical symptoms that finally led to the diagnosis of ornithine transcarbamylase deficiency in an 8-year-old boy. The suspected diagnosis could not be confirmed with the use of current challenge tests. The response to a high-protein diet for 24 hours appeared to be a helpful diagnostic aid.
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页码：249 / 251
页数：3
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