Transient Non-Ketotic Hyperglycinemia in a Newborn
DOI:
https://doi.org/10.3126/jnps.v36i3.16047Keywords:
NKH, apnea, seizures, hypotonia, glycine, CSF, plasmaAbstract
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.
J Nepal Paediatr Soc 2016;36(3):303-306
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