Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2003 Jan;40(Pt 1):102-7.
doi: 10.1258/000456303321016259.

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

Wim Ruitenbeek  1 , Keiko Kobayashi, Mikio Iijima, Jan A M Smeitink, Udo F H Engelke, Ronney A De Abreu, Hanneke T Kwast, Takeyori Saheki, Carolien A Boelen, Jan G N De Jong, Ron A Wevers
Affiliations
Case Reports

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

Wim Ruitenbeek et al. Ann Clin Biochem. 2003 Jan.

Abstract

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.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

Publication types

LinkOut - more resources