Abstract
Non-ketotic hyperglycinemia (NKH) is an uncommon metabolic disorder with an autosomal
recessive inheritance due to abnormal glycine metabolism. We present the pre-therapy
and post-therapy magnetic resonance imaging, biochemical and clinical features of
a child with NKH with manifestation in the early neonatal period. The initial diagnosis
of NKH was made on the biochemical evidence of elevated cerebrospinal fluid (CSF)
glycine levels and CSF: plasma glycine ratio. Pre-therapy magnetic resonance imaging
revealed thinned out corpus callosum, intracranial hemorrhages, prominent ventricular
system, few cystic changes in bilateral gangliocapsular region and abnormal T2 hyperintensities
in the white matter. Magnetic resonance spectroscopy did not reveal glycine peak in
our case. Post-therapy, there was clinical improvement and reduction in CSF glycine
levels. In the follow up scan, myelination had progressed with residual leukomalacic
changes and volume loss of white matter.
Keywords
Non-ketotic hyperglycinemia - MRS - MRI - glycine
