Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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Sequential magnetic resonance spectroscopic changes in a patient with nonketotic hyperglycinemia

  • Shin, Ji-Hun (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Ahn, So-Yoon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Shin, Jeong-Hee (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Sung, Se-In (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Jung, Ji-Mi (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Jin-Kyu (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Eun-Sun (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Park, Hyung-Doo (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Ji-Hye (Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Chang, Yun-Sil (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Park, Won-Soon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • 투고 : 2011.08.11
  • 심사 : 2012.03.20
  • 발행 : 2012.08.15
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초록

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.

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참고문헌

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피인용 문헌

  1. Evidence that glycine induces lipid peroxidation and decreases glutathione concentrations in rat cerebellum vol.395, pp.1, 2012, https://doi.org/10.1007/s11010-014-2118-z
  2. Index of Suspicion in the Nursery vol.16, pp.11, 2012, https://doi.org/10.1542/neo.16-11-e642
  3. Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype vol.42, pp.3, 2019, https://doi.org/10.1002/jimd.12072