LATE ONSET NON-KETOTIC HYPERGLYCINEMIA – A RARE PRESENTATION IN CHILDREN

Authors

  • Ammara Ayub Armed Forces Institute of Pathology (National University of Medical Sciences), Rawalpindi, Pakistani
  • Ayesha Hafeez Armed Forces Institute of Pathology (National University of Medical Sciences), Rawalpindi, Pakistani
  • Seemi Salman Military Hospital, Rawalpindi, Pakistan
  • Aamir Ijaz Armed Forces Institute of Pathology (National University of Medical Sciences), Rawalpindi, Pakistani
  • Munir Akmal Lodhi Armed Forces Institute of Pathology (National University of Medical Sciences), Rawalpindi, Pakistani
  • Asif Ali Armed Forces Institute of Pathology (National University of Medical Sciences), Rawalpindi, Pakistani

Abstract

Nonketotic hyperglycinemia (NKH) is an inherited metabolic disorder characterized by accumulation of large amounts of amino acid glycine in blood, urine and cerebrospinal fluid due to defect in Glycine cleavage system (GCS), leading to seizures, muscular hypotonia, lethargy and coma. The diagnosis of NKH is based on finding of either an increased absolute value of glycine in the cerebrospinal fluid (CSF) or an increased CSF to plasma glycine ratio (control values <0.02). Among its various forms, the late onset variant is rarer in children. We are reporting a rare case of a child who presented with seizures on the 8th year of life and later investigations revealed encephalopathy due to Nonketotic hyperglycinemia (Late onset/ atypical variant).

KEY WORDS: Nonketotic hyperglycinemia, Glycine cleavage system, Seizures, Encephalopathy

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Published

29-12-2016

How to Cite

1.
Ayub A, Hafeez A, Salman S, Ijaz A, Lodhi MA, Ali A. LATE ONSET NON-KETOTIC HYPERGLYCINEMIA – A RARE PRESENTATION IN CHILDREN. Pak J Pathol [Internet]. 2016 Dec. 29 [cited 2024 Apr. 19];27(3). Available from: https://pakjpath.com/index.php/Pak-J-Pathol/article/view/365

Issue

Vol. 27 No. 3 (2016)

Section

Case Report

License

Copyright (c) 2016 Ammara Ayub, Ayesha Hafeez, Seemi Salman, Aamir Ijaz, Munir Akmal Lodhi, Asif Ali

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