Nonketotic Hyperglycinemia: Two Case Reports and Review

Rajesh P. Poothrikovil*, Khalid Al Thihli, Amna Al Futaisi, Fathiya Al Murshidi

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةArticleمراجعة النظراء

14 اقتباسات (Scopus)


Nonketotic hyperglycinemia (NKH) or glycine encephalopathy is an autosomal recessive disorder of glycine metabolism resulting in an excessive accumulation of glycine in all body tissues, including the central nervous system. It is caused by a biochemical defect in the glycine cleavage system and considered as a rare disorder with an estimated prevalence of 1:60,000. The neonatal form presents in the first few days of life with progressive encephalopathy, hypotonia, myoclonic jerks, hiccups, seizures, rapid progression to coma and often death due to central apnea. Surviving infants often have severe developmental delay and refractory seizures. Atypical forms of NKH present with heterogeneous and nonspecific disease course. Classical glycine encephalopathy usually carries a very poor prognosis. We describe two neonates who presented with neonatal encephalopathy, apnea, and progressive lethargy. Increased CSF glycine level along with an elevated CSF to plasma glycine ratio was suggestive of classic NKH. Burst suppression EEG and agenesis of the corpus callosum were supportive findings. Evolution of the EEG patterns and course of the disease are discussed in detail. Transient phases of clinical stabilization and normalized plasma biochemical results may not necessarily reflect the actual encephalopathic process. Serial EEGs are helpful to assess the efficacy of treatment and to modify the therapeutic approach.

اللغة الأصليةEnglish
الصفحات (من إلى)142-151
عدد الصفحات10
دوريةNeurodiagnostic Journal
مستوى الصوت59
رقم الإصدار3
المعرِّفات الرقمية للأشياء
حالة النشرPublished - يوليو 3 2019

ASJC Scopus subject areas

  • ???subjectarea.asjc.2700.2728???
  • ???subjectarea.asjc.3600.3607???


أدرس بدقة موضوعات البحث “Nonketotic Hyperglycinemia: Two Case Reports and Review'. فهما يشكلان معًا بصمة فريدة.

قم بذكر هذا