Non-ketotic hyperglycinemia (NKH) has been diagnosed in two sibs. At the ages 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.
Non-ketotic hyperglycinemia - mental retardation - muscular hypotonia
