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Transient Non-Ketotic Hyperglycinemia in a Newborn
2017
Journal of Nepal Paediatric Society
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<p>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
doi:10.3126/jnps.v36i3.16047
fatcat:s6g7kaohbjdmvaa75cvkdiamly