BHY Chung, KY Wong, JSK Lee, BCC Lam

Abstract

Non-ketotic hyperglycinaemia (NKH) is a rare metabolic disease in Hong Kong. Only one case was reported in Hong Kong from literature search of the past ten years. We report a case with non-ketotic hyperglycinaemia who showed all the classical prenatal and postnatal clinical, biochemical and electroencephalographic features. Dextromethorphan, a non-competitive N-Methyl-D-Aspartate (NMDA) receptor antagonist, has been used in this patient. The clinical progress of the patient after starting the treatment was described. The patient finally died on day 23 of life. Currently available treatment options and their mechanisms of action are also discussed with reference to the underlying pathophysiology of non-ketotic hyperglycinaemia.