Non-ketotic hyperglycinemia in two sibs with mild psycho-neurological symptoms.
Non-ketotic hyperglycinemia (NKH) has been diagnosed in two sibs. At the age 2:5 years and 1:3 years respectively only moderate psycho-motor retardation and muscular hypotonia were seen in the elderly child while no psycho-neurological symptoms were seen in the younger sib. Neither of the children had convulsions. This observation is in contrast to earlier published cases of this disorder. A summary of earlier published cases of non-ketotic hyperglycinemia is presented.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D001921:Brain / Q000201:enzymology; D002675:Child, Preschool; D005260:Female; D005998:Glycine / Q000097:blood* / Q000378:metabolism; D006801:Humans; D007223:Infant; D008099:Liver / Q000201:enzymology; D008297:Male; D009461:Neurologic Manifestations
D005998:Glycine