Browsing by Author "Kundu,Soumi"
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Publication Transient Non-Ketotic Hyperglycinemia in a Newborn(Nepal Paediatric Society (JNPS), 2016) Choudhury, Tarak; Kundu,Soumi; Das, G.C.; Dasgupta, Malay KumarAbstract: In encephalopathic infants, cerebrospinal fluid hyperglycinemia and elevated cerebrospinal fluid to plasma glycine ratio are considered pathognomonic of Non-ketotic hyperglycinemia (NKH). It is due to a defect of the glycine cleavage system and has poor prognosis. We present a case of transient NKH presented to us with hypotonia, recurrent apnea and seizure. Increased ratio of cerebrospinal fluid to plasma glycine concentrations of 0.16 was seen as a strong diagnostic indicator of Non-ketotic hyperglycinemia.