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In Vivo 1 H Magnetic Resonance Spectroscopic Measurement of Brain Glycine Levels in Nonketotic Hyperglycinemia
Author(s) -
Gabis Lidia,
Parton Patricia,
Roche Patricia,
Lenn Nicholas,
Tudorica Alina,
Huang Wei
Publication year - 2001
Publication title -
journal of neuroimaging
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.822
H-Index - 64
eISSN - 1552-6569
pISSN - 1051-2284
DOI - 10.1111/j.1552-6569.2001.tb00036.x
Subject(s) - hyperglycinemia , medicine , glycine , glutamine , dextromethorphan , magnetic resonance imaging , cerebrospinal fluid , nuclear magnetic resonance , glycine cleavage system , endocrinology , amino acid , biochemistry , radiology , chemistry , anesthesia , physics
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 1 H 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 1 H MRS can be a valuable tool in the diagnosis and monitoring of treatment effects in patients with NKH.