Transient Non-Ketotic Hyperglycinemia in a Newborn

  • 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

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.

J Nepal Paediatr Soc 2016;36(3):303-306

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Author Biographies

Tarak Choudhury, RG Kar Medical College, Kolkata, West Bengal
Junior Resident, Department of Paediatrics
Soumi Kundu, RG Kar Medical College, Kolkata, West Bengal
Junior Resident, Department of Paediatrics
G.C. Das, RG Kar Medical College, Kolkata, West Bengal
Professor, Department of Paediatrics
Malay Kumar Dasgupta, RG Kar Medical College, Kolkata, West Bengal
Professor, Department of Paediatrics
Published
2017-04-16
How to Cite
Choudhury, T., Kundu, S., Das, G., & Dasgupta, M. (2017). Transient Non-Ketotic Hyperglycinemia in a Newborn. Journal of Nepal Paediatric Society, 36(3), 303-306. https://doi.org/10.3126/jnps.v36i3.16047
Section
Case Reports