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- W1988405280 abstract "Nonketotic hyperglycinemia (NKH) is an autosomal recessive disorder of glycine metabolism. Defective glycine cleavage causes elevated concentrations of glycine in plasma, urine, and cerebrospinal fluid. A longitudinal study using magnetic resonance imaging (MRI) and single-voxel 1H magnetic resonance spectroscopy (MRS) was performed on an infant with the typical clinical picture of NKH. He was examined twice during the course of treatment with sodium benzoate and dextromethorphan. At the age of 10 months, MRI showed normal brain structure, while MRS detected a prominent glycine peak in the brain. Repeat MRS at the age of 13 months showed a small increase in glycine peak and a prominent glutamate/glutamine peak not previously detected. The MRS measurements were consistent with the slight increase in blood glycine level and the elevation in glutamine level, indicating that 1HMRS can be a valuable tool in the diagnosis and monitoring of treatment effects in patients with NKH." @default.
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- W1988405280 date "2001-04-01" @default.
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- W1988405280 title "In Vivo<sup>1</sup>H Magnetic Resonance Spectroscopic Measurement of Brain Glycine Levels in Nonketotic Hyperglycinemia" @default.
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- W1988405280 doi "https://doi.org/10.1111/j.1552-6569.2001.tb00036.x" @default.
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