J Korean Pediatr Soc.
2000 Jul;43(7):993-999.
A Case of Korean Patient with Noketotic Hyperglycinemia: Diagnosed Based on CSF
Amino Acid Analysis and Magnetic Resonance Spectroscopy
- Affiliations
-
- 1Department of Pediatrics, College of Medicine Ulsan University, Asan Medical Center.
- 2Asan Institute of Life Science, Seoul, Korea.
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.