Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase

被引:11
作者
Ruitenbeek, W
Kobayashi, K
Iijima, M
Smeitink, JAM
Engelke, UFH
De Abreu, RA
Kwast, HT
Saheki, T
Boelen, CA
De Jong, JGN
Wevers, RA
机构
[1] Univ Nijmegen, Med Ctr, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands
[2] Kagoshima Univ, Fac Med, Dept Biochem, Kagoshima 890, Japan
[3] Univ Nijmegen, Med Ctr, Dept Metab Dis, Nijmegen, Netherlands
关键词
D O I
10.1258/000456303321016259
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
In a patient with microcephaly, feeding problems and restlessness, moderately increased serum and urine citrulline concentrations were observed. Protein and allopurinol loading did not result in additional indications for a urea cycle defect. The diagnosis of citrullinaemia was made at both the enzyme and DNA level, resulting from a novel mutation in the argininosuccinate synthetase gene. The fact that the patient has not suffered from severe deterioration, and that there were only minor abnormalities in metabolite concentrations, suggests that the argininosuccinate synthetase capacity was less affected in vivo than in vitro. In vitro nuclear magnetic resonance investigation suggested an active acetylation mechanism for citrulline. This case illustrates the importance of performing extensive biochemical and molecular investigations in order to reach a definitive diagnosis, particularly in instances of moderate citrullinaemia.
引用
收藏
页码:102 / 107
页数:6
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