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

Autor:	Moushumi Lodh
Jazyk:	angličtina
Rok vydání:	2013
Předmět:	citrullinemia hyperammonaemia inborn error amino acid Medicine
Zdroj:	Asian Journal of Medical Sciences, Vol 3, Iss 1, Pp 17-20 (2013)
Druh dokumentu:	article
ISSN:	2467-9100 2091-0576
DOI:	10.3126/ajms.v3i1.4801
Popis:	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.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/e8ba8dca0b2a4381aba45469676431b8 Zobrazit plný text záznamu View record in DOAJ