A Case of Korean Patient with Noketotic Hyperglycinemia: Diagnosed Based on CSF Amino Acid Analysis and Magnetic Resonance Spectroscopy.
- Author:
Kie Young PARK
1
;
Ai Rhan KIM
;
Ki Soo KIM
;
Soo Young PI
;
Tae Sung KO
;
Jung Hee LEE
;
Han Wook YOO
Author Information
1. Department of Pediatrics, College of Medicine Ulsan University, Asan Medical Center.
- Publication Type:Case Report
- Keywords:
Nonketotic hyperglycinemia(NKH);
Magnetic resonance spectroscopy(MRS)
- MeSH:
Apnea;
Basal Ganglia;
Coma;
Early Diagnosis;
Glycine;
Hiccup;
Humans;
Hyperglycinemia, Nonketotic;
Infant;
Korea;
Lethargy;
Magnetic Resonance Spectroscopy*;
Male;
Parturition;
Prognosis;
Reflex, Stretch;
Seizures
- From:Journal of the Korean Pediatric Society
2000;43(7):993-999
- CountryRepublic of Korea
- Language:Korean
-
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. Furtherrnore, 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-day- old 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.
