Diagnostic tools of metabolic and structural brain disturbances in neonatal non‐ketotic hyperglycinemia
Articles > Article · 2012
Authors: Demet TEREK, Özge ALTUN, S GUNES, Mehmet YALAZ, Mete AKISU, Sema KALKAN UÇAR, SARENUR GÖKBEN, Mahmut ÇOKER, NİLGÜN KÜLTÜRSAY
Pediatrics International, Journal Indexed in SCI Expanded, International, WoS, 2012, vol 54, pp 717-720
DOI: 10.1111/j.1442-200x.2012.03591.x
Summary
Non-ketotic hyperglycinemia (NKH) is a rare autosomal recessive disorder of glycine metabolism. We report a newborn case of NKH and discuss the effects of this rare disease on brain metabolism and structure together with amplitude-integrated electroencephalography, cranial magnetic resonance and magnetic resonance spectroscopy findings which are very rarely reported together so far.