Publication: Transient Non-Ketotic Hyperglycinemia in a Newborn
Date
2016
Journal Title
Journal ISSN
Volume Title
Publisher
Nepal Paediatric Society (JNPS)
Abstract
Abstract:
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.
Description
Tarak Choudhury
RG Kar Medical College, Kolkata, West Bengal
Soumi Kundu
RG Kar Medical College, Kolkata, West Bengal
G.C. Das
RG Kar Medical College, Kolkata, West Bengal
Malay Kumar Dasgupta
RG Kar Medical College, Kolkata, West Bengal
Keywords
NKH, apnea, seizures, hypotonia, glycine, CSF, plasma