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Magnetic resonance findings in a neonate with nonketotic hyperglycinemia : case report

We present brain imaging and spectroscopy data in a neonate with a confirmed classic form of nonketotic hyperglycinemia (NKH), an autosomal- recessive metabolic disorder characterized by accumulation of glycine. To our knowledge, this is the first report of such complete analysis of the changes seen on conventional magnetic resonance imaging, diffusion-weighted imaging, and magnetic resonance spectroscopy at such an early age. The findings in a neonate are consistent with reports in older children with NKH, confirming that pathological changes typical for NKH can be seen in the first postnatal week.

nonketotic hyperglycinemia; magnetic resonance imaging

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