Glycine Encephalopathy

Abstract

To the Editor: Nonketotic hyperglycemia (NKH) is a disease identified clinically with respiratory distress, muscular hypotonia, myoclonic seizures, vomiting and extreme lethargy. The outcome is almost invariably poor, and early infant deaths are frequent. Recently, we started treatment of a black female child with classic presentation of NKH. The diagnosis was confirmed at the age of four months by the abnormally high glycine concentrations in the blood, cerebrospinal fluid and urine (Table 1) determined by gas chromatography with verification by mass spectrography.Previous investigators have attempted to treat NKH with sodium benzoate. This treatment, which lowers the glycine concentration in . . .