Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: in vivo-in vitro (ex vivo) correlation.
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.
Huisman
T A G M
TA
Department of Neuroradiology and Magnetic Resonance, University Children's Hospital Zurich, Switzerland. thierry@nmr.mgh.harvard.edu
Thiel
T
T
Steinmann
B
B
Zeilinger
G
G
Martin
E
E
D001921:Brain / Q000378:metabolism*; D001923:Brain Chemistry; D005998:Glycine / Q000032:analysis; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000175:diagnosis*; D007231:Infant, Newborn; D009682:Magnetic Resonance Spectroscopy; D008297:Male
D005998:Glycine