Citrullinemia and Hyperglycinemia Presenting with Seizures - Case Report of a 4 Day Old Baby

Authors

  • Moushumi Lodh Sr Consultant, Instt. of Laboratory Medicine and Research, The Mission Hospital, Imon Kalyan Sarani, Sector 2C, Bidhannagar, Durgapur, West Bengal
  • Joshi Anand Kerketta Dept. of Pediatrics and Neonatalogy, The Mission Hospital, Imon Kalyan Sarani, Sector 2C, Bidhannagar, Durgapur, West Bengal

DOI:

https://doi.org/10.3126/ajms.v3i1.4801

Keywords:

citrullinemia, hyperammonaemia, inborn error, amino acid

Abstract

Inborn errors of amino acid metabolism (IEM) are of concern in India, the spectrum being wide, varied and poorly diagnosed. Since aggregate incidence of inborn errors of metabolism is relatively high, in countries such as India, a high degree of suspicion is essential to correctly diagnose an inborn error of amino acid metabolism. We report a case of citrullinemia, glycinemia with hyperammonaemia and seizures in a 4-dayold previously asymptomatic baby, with a brief review of the literature.

DOI: http://dx.doi.org/10.3126/ajms.v3i1.4801

Asian Journal of Medical Sciences 3(2012) 17-20

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Published

2013-02-18

How to Cite

Lodh, M., & Kerketta, J. A. (2013). Citrullinemia and Hyperglycinemia Presenting with Seizures - Case Report of a 4 Day Old Baby. Asian Journal of Medical Sciences, 3(1), 17–20. https://doi.org/10.3126/ajms.v3i1.4801

Issue

Vol. 3 No. 1 (2012)

Section

Original Articles

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