Open AccessTransient Non-Ketotic Hyperglycinemia in a Newborn
Author(s) -
Tarak Choudhury,
Soumi Kundu,
Gourab Das,
Malay Kumar Dasgupta
Publication year - 2017
Publication title -
journal of nepal paediatric society
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.13
H-Index - 8
eISSN - 1990-7982
pISSN - 1990-7974
DOI - 10.3126/jnps.v36i3.16047
Subject(s) - hyperglycinemia , medicine , cerebrospinal fluid , glycine cleavage system , glycine , endocrinology , hypotonia , chemistry , biochemistry , amino acid
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