Transient Non-Ketotic Hyperglycinemia in a Newborn

Authors

  • 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

DOI:

https://doi.org/10.3126/jnps.v36i3.16047

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

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Published

2017-04-16

How to Cite

Choudhury, T., Kundu, S., Das, G., & Dasgupta, M. K. (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

Issue

Section

Case Reports