| A Case of Korean Patient with Nonketotic Hyperglycinemia; Diagnosed Based on CSF Amino Acid Analysis and Magnetic Resonance Spectroscopy |
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Kie-Young Park1, Ai-Rhan Kim1, Ki-Soo Kim1, Soo-Young Pi1, Tae-Sung Ko1, Jung-Hee Lee2, Han-Wook Yoo1 |
1Department of Pediatrics, College of M edicine Ulsan University, Asan M edical Center, Seoul, Korea
2Asan Institute of Life Science, Seoul, Korea |
| 뇌척수액의 아미노산 분석과 수소 자기공명분광법으로 확진된 비케톤성 고글라이신혈증 1례 |
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박기영1, 김애란1, 김기수1, 피수영1, 고태성1, 이정희2, 유한욱1 |
1울산대학교 의과대학 서울중앙병원 소아과
2아산생명과학연구소 |
Correspondence:
Han-Wook Yoo, Email: hwyoo@www.amc.seoul.kr
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| Abstract |
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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. |
| Key Words:
Nonketotic hyperglycinemia(NKH), Magnetic resonance spectroscopy(MRS) |
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