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. 2012 Aug;55(8):301-5.
doi: 10.3345/kjp.2012.55.8.301. Epub 2012 Aug 23.

Sequential magnetic resonance spectroscopic changes in a patient with nonketotic hyperglycinemia

Ji Hun Shin  1 , So Yoon Ahn, Jeong Hee Shin, Se In Sung, Ji Mi Jung, Jin Kyu Kim, Eun Sun Kim, Hyung Doo Park, Ji Hye Kim, Yun Sil Chang, Won Soon Park
Affiliations

Sequential magnetic resonance spectroscopic changes in a patient with nonketotic hyperglycinemia

Ji Hun Shin et al. Korean J Pediatr. 2012 Aug.

Abstract

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: Glycine decarboxylase; Magnetic resonance spectroscopy; Nonketotic hyperglycinemia.

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Figures

Fig. 1
Fig. 1
Serial magnetic resonance spectroscopy findings in the basal ganglia of a patient with nonketotic hyperglycinemia. Glycine/creatinine area ratio in the basal ganglia was 1.135 on day 11 (A), 0.645 on day 31 (B), and 1.377 on day 48 (C). *Glycine peak.
Fig. 2
Fig. 2
Serial changes in the glycine levels in the plasma and cerebrospinal fluid (CSF). (A) Serial changes in glycine levels in the CSF and plasma. (B) Serial changes in glycine/creatinine ratio on magnetic resonance spectroscopy in different parts of the brain. The value obtained from the basal ganglia changed according to CSF and plasma glycine concentration. Gly, glycine; Cr, creatinine; WM, white matter.
Fig. 3
Fig. 3
Gene analysis results.
See this image and copyright information in PMC

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