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Korean J Pediatr 2012 August;55(8) :301-305.
Published online 2012 August 15.        doi:
Sequential magnetic resonance spectroscopic changes in a patient with nonketotic hyperglycinemia
Ji Hun Shin (Shin JH)1, So Yoon Ahn (Ahn SY)1, Jeong Hee Shin (Shin JH)1, Se In Sung (Sung SI)1, Ji Mi Jung (Jung JM)1, Jin Kyu Kim (Kim JK)1, Eun Sun Kim (Kim ES)1, Hyung Doo Park (Park HD)2, Ji Hye Kim (Kim JH)3, Yun Sil Chang (Chang YS)1, Won Soon Park (Park WS)1
1Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
2Departments of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
3Departments of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Corresponding Author: Won Soon Park ,Tel: +82-2-3410-3528, Fax: +82-2-3410-0043, Email:
Copyright © 2012 by The Korean Pediatric Society
Nonketotic hyperglycinemia (NKH) is a rare inborn error of amino acid metabolism. A defect in the glycine cleavage enzyme system results in highly elevated concentrations of glycine in the plasma, urine, cerebrospinal fluid, and brain, resulting in glycine-induced encephalopathy and neuropathy. The prevalence of NKH in Korea is very low, and no reports of surviving patients are available, given the scarcity and poor prognosis of this disease. In the current study, we present a patient with NKH diagnosed on the basis of clinical features, biochemical profiles, and genetic analysis. Magnetic resonance spectroscopy (MRS) allowed the measurement of absolute glycine concentrations in different parts of the brain that showed a significantly increased glycine peak, consolidating the diagnosis of NKH. In additional, serial MRS follow-up showed changes in the glycine/creatinine ratios in different parts of the brain. In conclusion, MRS is an effective, noninvasive diagnostic tool for NKH that can be used to distinguish this disease from other glycine metabolism disorders. It may also be useful for monitoring NKH treatment.
Keywords: Nonketotic hyperglycinemia | Magnetic resonance spectroscopy | Glycine decarboxylase
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