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• W2049984103 abstract "Nonketotic hyperglycinemia is a life-threatening disorder in neonates characterized by a deficiency of the glycine cleavage system. We report on four cases of the neonatal form of the disease, which were investigated by in vitro1H magnetic resonance spectroscopy of blood and cerebrospinal fluid, and in vivo1H magnetic resonance spectroscopy of brain. The existence of glycine disposal pathways leading to an increase in lactate in fluids and creatine in fluids and brain was demonstrated. This is the first observation of elevated creatine in brain in nonketotic hyperglycinemia. A recurrent decrease of glutamine and citrate was observed in cerebrospinal fluid, which might be related to abnormal glutamine metabolism in brain. Finally, the cerebral N-acetylaspartate to myo-inositol-glycine ratio was identified as a prognostic indicator of the disease." @default.
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• W2049984103 date "2002-08-01" @default.
• W2049984103 modified "2023-10-10" @default.
• W2049984103 title "Magnetic Resonance Spectroscopy Study of Glycine Pathways in Nonketotic Hyperglycinemia" @default.
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• W2049984103 doi "https://doi.org/10.1203/00006450-200208000-00024" @default.
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