Nonketotic Hyperglycinemia (NKH) is an inborn error of metabolism
characterized by the accumulation of large amounts of the amino acid
glycine in blood, urine and particularly, the cerebrospinal fluid (CSF).
The metabolic block occurs in the conversion of glycine into smaller
molecules.
NKH is an inherited disorder, which has a wide variety of effects.
Those affected by NKH are both physically and mentally delayed in
their development. This means that they will not learn to do things
at the same rate that other children will and there is no way to predict
what they will or will not be able to do.
Sadly, some children do not progress very far with their abilities-
either mental or physical. There are, however, children who do learn
to walk or communicate.
NKH occurs when a child inherits recessive genes for the disorder
each parent. In order for NKH to appear, each parent must have
contributed a gene and there is nothing that either parent could do to
have caused it. At this time, there is no definitive cure for NKH.