All issues > Volume 43(7); 2000

Case Report

J Korean Pediatr Soc. 2000;43(7):993-999. Published online July 15, 2000.

A Case of Korean Patient with Nonketotic Hyperglycinemia; Diagnosed Based on CSF Amino Acid Analysis and Magnetic Resonance Spectroscopy

Kie-Young KY Park¹, Ai-Rhan AR Kim¹, Ki-Soo KS Kim¹, Soo-Young SY Pi¹, Tae-Sung TS Ko¹, Jung-Hee JH Lee², Han-Wook HW Yoo¹

¹Department of Pediatrics, College of M edicine Ulsan University, Asan M edical Center, Seoul, Korea
²Asan Institute of Life Science, Seoul, Korea

Correspondence Han-Wook HW Yoo ,Email: hwyoo@www.amc.seoul.kr

Abstract

Nonketotic hyperglycinemia is an extremely rare congenital metabolic disorder, which is caused by the lack of a glycine cleavage system. The onset of hyperglycinemic symptom is during the neonatal or early infant period. Progressing grave neuromotor dysfunction is one of the main symptoms. They include myoclonic seizure, hiccup, apnea, decreased deep tendon reflex, lethargy and coma. The prognosis is mostly very poor. Furthermore, there aren' t any effective treatments for nonketotic hyperglycinemia. To our knowledge, there has been no reported case of nonketotic hyperglycinemia in Korea. We experienced a case of nonketotic hyperglycinemia in a three-dayold boy, who had manifested with intractable seizure, mental alteration, apnea, hiccup and feeding intolerance. Unfortunately, he died of intractable seizure and neuromotor dysfunction at 20 days after birth. We could make an early diagnosis on the basis of clinical suspicion and high glycine signal in both cerebral white matter and basal ganglias with magnetic resonance spectroscopy (MRS), before amino acid analyses of serum and cerebrospinal fluid(CSF) were obtained. We report a Korean case of nonketotic hyperglycinemia with a brief review of literatures.

Keywords :Nonketotic hyperglycinemia(NKH), Magnetic resonance spectroscopy(MRS)