Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: in vivo-in vitro (ex vivo) correlation.
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Abstract
Nonketotic hyperglycinemia (NKH) is an inborn error of amino acid metabolism caused by a defect in the glycine cleavage multienzyme complex resulting in high concentrations of glycine within the brain and spinal cord. Quantitative magnetic resonance spectroscopy ((1)H-MRS) allows measurement of absolute glycine concentrations within different parts of the brain in vivo. In addition, (1)H-MRS may be useful in monitoring treatment of NKH and to differentiate this disease from other disorders of glycine metabolism.
Medical subject headings
- Brain
- Hyperglycinemia, Nonketotic