Glycine Encephalopathy (Nonketotic Hyperglycinemia)

Glycine Encephalopathy (Nonketotic Hyperglycinemia)

Glycine encephalopathy (also known as non-ketotic hyperglycinemia or NKH) is a rare autosomal recessive disorder of glycine metabolism. After phenylketonuria, glycine encephalopathy is the second most common disorder of amino acid metabolism. The disease is caused by defects in the glycine cleavage system, an enzyme responsible for glycine catabolism. There are several forms of the disease, with varying severity of symptoms and time of onset. The symptoms are exclusively neurological in nature, and clinically this disorder is characterized by abnormally high levels of the amino acid glycine in bodily fluids and tissues, especially the cerebral spinal fluid.

Glycine encephalopathy is sometimes referred to as "nonketotic hyperglycinemia" (NKH), as a reference to the biochemical findings seen in patients with the disorder, and to distinguish it from the disorders that cause "ketotic hyperglycinemia" (seen in propionic acidemia and several other inherited metabolic disorders). To avoid confusion, the term "glycine encephalopathy" is often used, as this term more accurately describes the clinical symptoms of the disorder.

Read more about Glycine Encephalopathy (Nonketotic Hyperglycinemia):  Pathophysiology, Classification, Genetics

Other articles related to "glycine":

Glycine Encephalopathy (Nonketotic Hyperglycinemia) - Genetics
... Glycineencephalopathy has an estimated incidence of 1 in 60,000,making it the second most common disorder of amino acid metabolism,after phenylketonuria ... It is caused by a defect in the glycinecleavage system GCS) which is made up of four protein subunits ... Defects in three of these four genes have been linked to glycineencephalopathy ...