Diagnostic tools of metabolic and structural brain disturbances in neonatal non-ketotic hyperglycinemia

WOS: 000309234600024PubMed ID: 23005907Non-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