Kabir Bharti, Naveen Bajaj
Nonketotic hyperglycinemia (NKH) is a rare autosomal recessive inborn error of glycine metabolism caused by a defect in the glycine cleavage system.
A 28-day-old neonate presented with recurrent seizures, hypotonia, and encephalopathy on admission. There was no evidence of sepsis on investigations. The neonate was given assisted mechanical ventilation and seizure-control therapy. Oral feeds were stopped and the neonate was started on sodium benzoate, dextromethorphan, and pyridoxine treatment. The sensorium improved and seizures were controlled with drug therapy.
Although there is no definitive cure for NKH, early diagnosis and treatment can decrease neural morbidity and early deaths in these neonates.
Please complete the form below to download PDF:
(* Mandatory fields)